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1. Genome Project Standards in a New Era of Sequencing

Author: Genomic Standards Consortium Human Microbiome Project Jumpstart Consortium, Chain, P. S. G., Grafham, D. V., Fulton, R. S., FitzGerald, M. G., Hostetler, J., Muzny, D., Ali, J., Birren, B., Bruce, D. C., Buhay, C., Cole, J. R., Ding, Y., Dugan, S., Field, D., Garrity, G. M., Gibbs, R., Graves, T., Han, C. S., Harrison, S. H., Highlander, S., Hugenholtz, P., Khouri, H. M., Kodira, C. D., Kolker, E., Kyrpides, N. C., Lang, D., Lapidus, A., Malfatti, S. A., Markowitz, V., Metha, T., Nelson, K. E., Parkhill, J., Pitluck, S., Qin, X., Read, T. D., Schmutz, J., Sozhamannan, S., Sterk, P., Strausberg, R. L., Sutton, G., Thomson, N. R., Tiedje, J. M., Weinstock, G., Wollam, A., and Detter, J. C.
Published: 2009
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2. The DNA sequence and biological annotation of human chromosome 1

Author: Gregory, S. G., Barlow, K. F., McLay, K. E., Kaul, R., Swarbreck, D., Dunham, A., Scott, C. E., Howe, K. L., Woodfine, K., Spencer, C. C. A., Jones, M. C., Gillson, C., Searle, S., Zhou, Y., Kokocinski, F., McDonald, L., Evans, R., Phillips, K., Atkinson, A., Cooper, R., Jones, C., Hall, R. E., Andrews, T. D., Lloyd, C., Ainscough, R., Almeida, J. P., Ambrose, K. D., Anderson, F., Andrew, R. W., Ashwell, R. I. S., Aubin, K., Babbage, A. K., Bagguley, C. L., Bailey, J., Beasley, H., Bethel, G., Bird, C. P., Bray-Allen, S., Brown, J. Y., Brown, A. J., Buckley, D., Burton, J., Bye, J., Carder, C., Chapman, J. C., Clark, S. Y., Clarke, G., Clee, C., Cobley, V., Collier, R. E., Corby, N., Coville, G. J., Davies, J., Deadman, R., Dunn, M., Earthrowl, M., Ellington, A. G., Errington, H., Frankish, A., Frankland, J., French, L., Garner, P., Garnett, J., Gay, L., Ghori, M. R. J., Gibson, R., Gilby, L. M., Gillett, W., Glithero, R. J., Grafham, D. V., Griffiths, C., Griffiths-Jones, S., Grocock, R., Hammond, S., Harrison, E. S. I., Hart, E., Haugen, E., Heath, P. D., Holmes, S., Holt, K., Howden, P. J., Hunt, A. R., Hunt, S. E., Hunter, G., Isherwood, J., James, R., Johnson, C., Johnson, D., Joy, A., Kay, M., Kershaw, J. K., Kibukawa, M., Kimberley, A. M., King, A., Knights, A. J., Lad, H., Laird, G., Lawlor, S., Leongamornlert, D. A., Lloyd, D. M., Loveland, J., Lovell, J., Lush, M. J., Lyne, R., Martin, S., Mashreghi-Mohammadi, M., Matthews, L., Matthews, N. S. W., McLaren, S., Milne, S., Mistry, S., Nickerson, T., O'Dell, C. N., Oliver, K., Palmeiri, A., Palmer, S. A., Parker, A., Patel, D., Pearce, A. V., Peck, A. I., Pelan, S., Phelps, K., Phillimore, B. J., Plumb, R., Rajan, J., Raymond, C., Rouse, G., Saenphimmachak, C., Sehra, H. K., Sheridan, E., Shownkeen, R., Sims, S., Skuce, C. D., Smith, M., Steward, C., Subramanian, S., Sycamore, N., Tracey, A., Tromans, A., Van Helmond, Z., Wall, M., Wallis, J. M., White, S., Whitehead, S. L., Wilkinson, J. E., Willey, D. L., Williams, H., Wilming, L., Wray, P. W., Wu, Z., Coulson, A., Vaudin, M., Sulston, J. E., Durbin, R., Hubbard, T., Wooster, R., Dunham, I., Carter, N. P., McVean, G., Ross, M. T., Harrow, J., Olson, M. V., Beck, S., Rogers, J., and Bentley, D. R.
Subjects: Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract: Author(s): S. G. Gregory (corresponding author) [1, 2]; K. F. Barlow [1]; K. E. McLay [1]; R. Kaul [3]; D. Swarbreck [1]; A. Dunham [1]; C. E. Scott [1]; K. [...]
Published: 2006
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3. The DNA sequence and analysis of human chromosome 13

Author: Dunham, A., Matthews, L. H., Burton, J., Ashurst, J. L., Howe, K. L., Ashcroft, K. J., Beare, D. M., Burford, D. C., Hunt, S. E., Griffiths-Jones, S., Jones, M. C., Keenan, S. J., Oliver, K., Scott, C. E., Ainscough, R., Almeida, J. P., Ambrose, K. D., Andrews, D. T., Ashwell, R. I. S., Babbage, A. K., Bagguley, C. L., Bailey, J., Bannerjee, R., Barlow, K. F., Bates, K., Beasley, H., Bird, C. P., Bray-Allen, S., Brown, A. J., Brown, J. Y., Burrill, W., Carder, C., Carter, N. P., Chapman, J. C., Clamp, M. E., Clark, S. Y., Clarke, G., Clee, C. M., Clegg, S. C. M., Cobley, V., Collins, J. E., Corby, N., Coville, G. J., Deloukas, P., Dhami, P., Dunham, I., Dunn, M., Earthrowl, M. E., Ellington, A. G., Faulkner, L., Frankish, A. G., Frankland, J., French, L., Garner, P., Garnett, J., Gilbert, J. G. R., Gilson, C. J., Ghori, J., Grafham, D. V., Gribble, S. M., Griffiths, C., Hall, R. E., Hammond, S., Harley, J. L., Hart, E. A., Heath, P. D., Howden, P. J., Huckle, E. J., Hunt, P. J., Hunt, A. R., Johnson, C., Johnson, D., Kay, M., Kimberley, A. M., King, A., Laird, G. K., Langford, C. J., Lawlor, S., Leongamornlert, D. A., Lloyd, D. M., Lloyd, C., Loveland, J. E., Lovell, J., Martin, S., Mashreghi-Mohammadi, M., McLaren, S. J., McMurray, A., Milne, S., Moore, M. J. F., Nickerson, T., Palmer, S. A., Pearce, A. V., Peck, A. I., Pelan, S., Phillimore, B., Porter, K. M., Rice, C. M., Searle, S., Sehra, H. K., Shownkeen, R., Skuce, C. D., Smith, M., Steward, C. A., Sycamore, N., Tester, J., Thomas, D. W., Tracey, A., Tromans, A., Tubby, B., Wall, M., Wallis, J. M., West, A. P., Whitehead, S. L., Willey, D. L., Wilming, L., Wray, P. W., Wright, M. W., Young, L., Coulson, A., Durbin, R., Hubbard, T., Sulston, J. E., Beck, S., Bentley, D. R., Rogers, J., and Ross, M. T.
Published: 2004
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4. DNA sequence and analysis of human chromosome 9

Author: Humphray, S. J., Oliver, K., Hunt, A. R., Plumb, R. W., Loveland, J. E., Howe, K. L., Andrews, T. D., Searle, S., Hunt, S. E., Scott, C. E., Jones, M. C., Ainscough, R., Almeida, J. P., Ambrose, K. D., Ashwell, R. I. S., Babbage, A. K., Babbage, S., Bagguley, C. L., Bailey, J., Banerjee, R., Barker, D. J., Barlow, K. F., Bates, K., Beasley, H., Beasley, O., Bird, C. P., Bray-Allen, S., Brown, A. J., Brown, J. Y., Burford, D., Burrill, W., Burton, J., Carder, C., Carter, N. P., Chapman, J. C., Chen, Y., Clarke, G., Clark, S. Y., Clee, C. M., Clegg, S., Collier, R. E., Corby, N., Crosier, M., Cummings, A. T., Davies, J., Dhami, P., Dunn, M., Dutta, I., Dyer, L. W., Earthrowl, M. E., Faulkner, L., Fleming, C. J., Frankish, A., Frankland, J. A., French, L., Fricker, D. G., Garner, P., Garnett, J., Ghori, J., Gilbert, J. G. R., Glison, C., Grafham, D. V., Gribble, S., Griffiths, C., Griffiths-Jones, S., Grocock, R., Guy, J., Hall, R. E., Hammond, S., Harley, J. L., Harrison, E. S. I., Hart, E. A., Heath, P. D., Henderson, C. D., Hopkins, B. L., Howard, P. J., Howden, P. J., Huckle, E., Johnson, C., Johnson, D., Joy, A. A., Kay, M., Keenan, S., Kershaw, J. K., Kimberley, A. M., King, A., Knights, A., Laird, G. K., Langford, C., Lawlor, S., Leongamornlert, D. A., Leversha, M., Lloyd, C., Lloyd, D. M., Lovell, J., Martin, S., Mashreghi-Mohammadi, M., Matthews, L., McLaren, S., McLay, K. E., McMurray, A., Milne, S., Nickerson, T., Nisbett, J., Nordsiek, G., Pearce, A. V., Peck, A. I., Porter, K. M., Pandian, R., Pelan, S., Phillimore, B., Povey, S., Ramsey, Y., Rand, V., Scharfe, M., Sehra, H. K., Shownkeen, R., Sims, S. K., Skuce, C. D., Smith, M., Steward, C. A., Swarbreck, D., Sycamore, N., Tester, J., Thorpe, A., Tracey, A., Tromans, A., Thomas, D. W., Wall, M., Wallis, J. M., West, A. P., Whitehead, S. L., Willey, D. L., Williams, S. A., Wilming, L., Wray, P. W., Young, L., Ashurst, J. L., Coulson, A., Blocker, H., Durbin, R., Sulston, J. E., Hubbard, T., Jackson, M. J., Bentley, D. R., Beck, S., Rogers, J., and Dunham, I.
Subjects: Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract: Author(s): S. J. Humphray (corresponding author) [1]; K. Oliver [1]; A. R. Hunt [1]; R. W. Plumb [1]; J. E. Loveland [1]; K. L. Howe [1]; T. D. Andrews [1]; [...]
Published: 2004
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5. The DNA sequence and comparative analysis of human chromosome 10

Author: Deloukas, P., Earthrowl, M. E., Grafham, D. V., Rubenfield, M., French, L., Steward, C. A., Sims, S. K., Jones, M. C., Searle, S., Scott, C., Howe, K., Hunt, S. E., Andrews, T. D., Gilbert, J. G. R., Swarbreck, D., Ashurst, J. L., Taylor, A., Battles, J., Bird, C. P., Ainscough, R., Almeida, J. P., Ashwell, R. I. S., Ambrose, K. D., Babbage, A. K., Bagguley, C. L., Bailey, J., Banerjee, R., Bates, K., Beasley, H., Bray-Allen, S., Brown, A. J., Brown, J. Y., Burford, D. C., Burrill, W., Burton, J., Cahill, P., Camire, D., Carter, N. P., Chapman, J. C., Clark, S. Y., Clarke, G., Clee, C. M., Clegg, S., Corby, N., Coulson, A., Dhami, P., Dutta, I., Dunn, M., Faulkner, L., Frankish, A., Frankland, J. A., Garner, P., Garnett, J., Gribble, S., Griffiths, C., Grocock, R., Gustafson, E., Hammond, S., Harley, J. L., Hart, E., Heath, P. D., Ho, T. P., Hopkins, B., Horne, J., Howden, P. J., Huckle, E., Hynds, C., Johnson, C., Johnson, D., Kana, A., Kay, M., Kimberley, A. M., Kershaw, J. K., Kokkinaki, M., Laird, G. K., Lawlor, S., Lee, H. M., Leongamornlert, D. A., Laird, G., Lloyd, C., Lloyd, D. M., Loveland, J., Lovell, J., McLaren, S., McLay, K. E., McMurray, A., Mashreghi-Mohammadi, M., Matthews, L., Milne, S., Nickerson, T., Nguyen, M., Overton-Larty, E., Palmer, S. A., Pearce, A. V., Peck, A. I., Pelan, S., Phillimore, B., Porter, K., Rice, C. M., Rogosin, A., Ross, M. T., Sarafidou, T., Sehra, H. K., Shownkeen, R., Skuce, C. D., Smith, M., Standring, L., Sycamore, N., Tester, J., Thorpe, A., Torcasso, W., Tracey, A., Tromans, A., Tsolas, J., Wall, M., Walsh, J., Wang, H., Weinstock, K., West, A. P., Willey, D. L., Whitehead, S. L., Wilming, L., Wray, P. W., Young, L., Chen, Y., Lovering, R. C., Moschonas, N. K., Siebert, R., Fechtel, K., Bentley, D., Durbin, R., Hubbard, T., Doucette-Stamm, L., Beck, S., Smith, D. R., and Rogers, J.
Subjects: Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract: Author(s): P. Deloukas (corresponding author) [1]; M. E. Earthrowl [1]; D. V. Grafham [1]; M. Rubenfield [2, 3]; L. French [1]; C. A. Steward [1]; S. K. Sims [1]; M. [...]
Published: 2004
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6. The DNA sequence and analysis of human chromosome 6

Author: Mungall, A. J., Palmer, S. A., Sims, S. K., Edwards, C. A., Ashurst, J. L., Wilming, L., Jones, M. C., Horton, R., Hunt, S. E., Scott, C. E., Gilbert, J. G. R., Clamp, M. E., Bethel, G., Milne, S., Ainscough, R., Almeida, J. P., Ambrose, K. D., Andrews, T. D., Ashwell, R. I. S., Babbage, A. K., Bagguley, C. L., Bailey, J., Banerjee, R., Barker, D. J., Barlow, K. F., Bates, K., Beare, D. M., Beasley, H., Beasley, O., Bird, C. P., Blakey, S., Bray-Allen, S., Brook, J., Brown, A. J., Brown, J. Y., Burford, D. C., Burrill, W., Burton, J., Carder, C., Carter, N. P., Chapman, J. C., Clark, S. Y., Clark, G., Clee, C. M., Clegg, S., Cobley, V., Collier, R. E., Collins, J. E., Colman, L. K., Corby, N. R., Coville, G. J., Culley, K. M., Dhami, P., Davies, J., Dunn, M., Earthrowl, M. E., Ellington, A. E., Evans, K. A., Faulkner, L., Francis, M. D., Frankish, A., Frankland, J., French, L., Garner, P., Garnett, J., Ghori, M. J. R., Gilby, L. M., Gillson, C. J., Glithero, R. J., Grafham, D. V., Grant, M., Gribble, S., Griffiths, C., Griffiths, M., Hall, R., Halls, K. S., Hammond, S., Harley, J. L., Hart, E. A., Heath, P. D., Heathcott, R., Holmes, S. J., Howden, P. J., Howe, K. L., Howell, G. R., Huckle, E., Humphray, S. J., Humphries, M. D., Hunt, A. R., Johnson, C. M., Joy, A. A., Kay, M., Keenan, S. J., Kimberley, A. M., King, A., Laird, G. K., Langford, C., Lawlor, S., Leongamornlert, D. A., Leversha, M., Lloyd, C. R., Lloyd, D. M., Loveland, J. E., Lovell, J., Martin, S., Mashreghi-Mohammadi, M., Maslen, G. L., Matthews, L., McCann, O. T., McLaren, S. J., McLay, K., McMurray, A., Moore, M. J. F., Mullikin, J. C., Niblett, D., Nickerson, T., Novik, K. L., Oliver, K., Overton-Larty, E. K., Parker, A., Patel, R., Pearce, A. V., Peck, A. I., Phillimore, B., Phillips, S., Plumb, R. W., Porter, K. M., Ramsey, Y., Ranby, S. A., Rice, C. M., Ross, M. T., Searle, S. M., Sehra, H. K., Sheridan, E., Skuce, C. D., Smith, S., Smith, M., Spraggon, L., Squares, S. L., Steward, C. A., Sycamore, N., Tamlyn-Hall, G., Tester, J., Theaker, A. J., Thomas, D. W., Thorpe, A., Tracey, A., Tromans, A., Tubby, B., Wall, M., Wallis, J. M., West, A. P., White, S. S., Whitehead, S. L., Whittaker, H., Wild, A., Willey, D. J., Wilmer, T. E., Wood, J. M., Wray, P. W., Wyatt, J. C., Young, L., Younger, R. M., Bentley, D. R., Coulson, A., Durbin, R., Hubbard, T., Sulston, J. E., Dunham, I., Rogers, J., and Beck, S.
Subjects: Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract: Author(s): A. J. Mungall (corresponding author) [1, 2]; S. A. Palmer [1]; S. K. Sims [1]; C. A. Edwards [1]; J. L. Ashurst [1]; L. Wilming [1]; M. C. Jones [...]
Published: 2003
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7. The DNA sequence and comparative analysis of human chromosome 20

Author: Deloukas, P., Matthews, L. H., Ashurst, J., Burton, J., Gilbert, J. G. R., Jones, M., Stavrides, G., Almeida, J. P., Babbage, A. K., Bagguley, C. L., Bailey, J., Barlow, K. F., Bates, K. N., Beard, L. M., Beare, D. M., Beasley, O. P., Bird, C. P., Blakey, S. E., Bridgeman, A. M., Brown, A. J., Buck, D., Burrill, W., Butler, A. P., Carder, C., Carter, N. P., Chapman, J. C., Clamp, M., Clark, G., Clark, L. N., Clark, S. Y., Clee, C. M., Clegg, S., Cobley, V. E., Collier, R. E., Connor, R., Corby, N. R., Coulson, A., Coville, G. J., Deadman, R., Dhami, P., Dunn, M., Ellington, A. G., Frankland, J. A., Fraser, A., French, L., Garner, P., Grafham, D. V., Griffiths, C., Griffiths, M. N. D., Gwilliam, R., Hall, R. E., Hammond, S., Harley, J. L., Heath, P. D., Ho, S., Holden, J. L., Howden, P. J., Huckle, E., Hunt, A. R., Hunt, S. E., Jekosch, K., Johnson, C. M., Johnson, D., Kay, M. P., Kimberley, A. M., King, A., Knights, A., Laird, G. K., Lawlor, S., Lehvaslaiho, M. H., Leversha, M., Lloyd, C., Lloyd, D. M., Lovell, J. D., Marsh, V. L., Martin, S. L., McConnachie, L. J., McLay, K., McMurray, A. A., Milne, S., Mistry, D., Moore, M. J. F., Mullikin, J. C., Nickerson, T., Oliver, K., Parker, A., Patel, R., Pearce, T. A. V., Peck, A. I., Phillimore, B. J. C. T., Prathalingam, S. R., Plumb, R. W., Ramsay, H., Rice, C. M., Ross, M. T., Scott, C. E., Sehra, H. K., Shownkeen, R., Sims, S., Skuce, C. D., Smith, M. L., Soderlund, C., Steward, C. A., Sulston, J. E., Swann, M., Sycamore, N., Taylor, R., Tee, L., Thomas, D. W., Thorpe, A., Tracey, A., Tromans, A. C., Vaudin, M., Wall, M., Wallis, J. M., Whitehead, S. L., Whittaker, P., Willey, D. L., Williams, L., Williams, S. A., Wilming, L., Wray, P. W., Hubbard, T., Durbin, R. M., Bentley, D. R., Beck, S., and Rogers, J.
Subjects: Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract: Author(s): The Wellcome Trust Sanger Institute ; P. Deloukas (corresponding author); L. H. Matthews; J. Ashurst; J. Burton; J. G. R. Gilbert; M. Jones; G. Stavrides; J. P. Almeida; A. [...]
Published: 2001
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8. Genome Project Standards in a New Era of Sequencing

Author: Chain, P. S. G., Grafham, D. V., Fulton, R. S., FitzGerald, M. G., Hostetler, J., Muzny, D., Ali, J., Birren, B., Bruce, D. C., Buhay, C., Cole, J. R., Ding, Y., Dugan, S., Field, D., Garrity, G. M., Gibbs, R., Graves, T., Han, C. S., Harrison, S. H., Highlander, S., Hugenholtz, P., Khouri, H. M., Kodira, C. D., Kolker, E., Kyrpides, N. C., Lang, D., Lapidus, A., Malfatti, S. A., Markowitz, V., Metha, T., Nelson, K. E., Parkhill, J., Pitluck, S., Qin, X., Read, T. D., Schmutz, J., Sozhamannan, S., Sterk, P., Strausberg, R. L., Sutton, G., Thomson, N. R., Tiedje, J. M., Weinstock, G., Wollam, A., and Detter, J. C.
Published: 2009

9. Genetic diversity of equine herpesvirus 1 isolated from neurological, abortigenic and respiratory disease outbreaks

Author: Bryant, N.A., Wilkie, G.S., Russell, C.A., Compston, L., Grafham, D., Clissold, L., McLay, K., Medcalf, L., Newton, R., Davison, A.J., and Elton, D.M.
Abstract: Equine herpesvirus 1 (EHV-1) causes respiratory disease, abortion, neonatal death and neurological disease in equines and is endemic in most countries. The viral factors that influence EHV-1 disease severity are poorly understood, and this has hampered vaccine development. However, the N752D substitution in the viral DNA polymerase catalytic subunit has been shown statistically to be associated with neurological disease. This has given rise to the term “neuropathic strain,” even though strains lacking the polymorphism have been recovered from cases of neurological disease. To broaden understanding of EHV-1 diversity in the field, 78 EHV-1 strains isolated over a period of 35 years were sequenced. The great majority of isolates originated from the United Kingdom and included in the collection were low passage isolates from respiratory, abortigenic and neurological outbreaks. Phylogenetic analysis of regions spanning 80% of the genome showed that up to 13 viral clades have been circulating in the United Kingdom and that most of these are continuing to circulate. Abortion isolates grouped into nine clades, and neurological isolates grouped into five. Most neurological isolates had the N752D substitution, whereas most abortion isolates did not, although three of the neurological isolates from linked outbreaks had a different polymorphism. Finally, bioinformatic analysis suggested that recombination has occurred between EHV-1 clades, between EHV-1 and equine herpesvirus 4, and between EHV-1 and equine herpesvirus 8.
Published: 2018

10. Initial sequencing and analysis of the human genome

Author: Lander, ES, Linton, LM, Birren, B, Nusbaum, C, Zody, MC, Baldwin, J, Devon, K, Dewar, K, Doyle, M, FitzHugh, W, Funke, R, Gage, D, Harris, K, Heaford, A, Howland, J, Kann, L, Lehoczky, J, LeVine, R, McEwan, P, McKernan, K, Meldrim, J, Mesirov, JP, Miranda, C, Morris, W, Naylor, J, Raymond, C, Rosetti, M, Santos, R, Sheridan, A, Sougnez, C, Stange-Thomann, N, Stojanovic, N, Subramanian, A, Wyman, D, Rogers, J, Sulston, J, Ainscough, R, Beck, S, Bentley, D, Burton, J, Clee, C, Carter, N, Coulson, A, Deadman, R, Deloukas, P, Dunham, A, Dunham, I, Durbin, R, French, L, Grafham, D, Gregory, S, Hubbard, T, Humphray, S, Hunt, A, Jones, M, Lloyd, C, McMurray, A, Matthews, L, Mercer, S, Milne, S, Mullikin, JC, Mungall, A, Plumb, R, Ross, M, Shownkeen, R, Sims, S, Waterston, RH, Wilson, RK, Hillier, LW, McPherson, JD, Marra, MA, Mardis, ER, Fulton, LA, Chinwalla, AT, Pepin, KH, Gish, WR, Chissoe, SL, Wendl, MC, Delehaunty, KD, Miner, TL, Delehaunty, A, Kramer, JB, Cook, LL, Fulton, RS, Johnson, DL, Minx, PJ, Clifton, SW, Hawkins, T, Branscomb, E, Predki, P, Richardson, P, Wenning, S, Slezak, T, Doggett, N, Cheng, JF, Olsen, A, Lucas, S, Elkin, C, Uberbacher, E, Frazier, M, Gibbs, RA, Muzny, DM, Scherer, SE, Bouck, JB, Sodergren, EJ, Worley, KC, Rives, CM, Gorrell, JH, Metzker, ML, Naylor, SL, Kucherlapati, RS, Nelson, DL, Weinstock, GM, Sakaki, Y, Fujiyama, A, Hattori, M, Yada, T, Toyoda, A, Itoh, T, Kawagoe, C, Watanabe, H, Totoki, Y, Taylor, T, Weissenbach, J, Heilig, R, Saurin, W, Artiguenave, F, Brottier, P, Bruls, T, Pelletier, E, Robert, C, Wincker, P, Smith, DR, Doucette-Stamm, L, Rubenfield, M, Weinstock, K, Lee, HM, Dubois, J, Rosenthal, A, Platzer, M, Nyakatura, G, Taudien, S, Rump, A, Yang, H, Yu, J, Wang, J, Huang, G, Gu, J, Hood, L, Rowen, L, Madan, A, Qin, S, Davis, RW, Federspiel, NA, Abola, AP, Proctor, MJ, Myers, RM, Schmutz, J, Dickson, M, Grimwood, J, Cox, DR, Olson, MV, Kaul, R, Shimizu, N, Kawasaki, K, Minoshima, S, Evans, GA, Athanasiou, M, Schultz, R, Roe, BA, Chen, F, Pan, H, Ramser, J, Lehrach, H, Reinhardt, R, McCombie, WR, de la Bastide, M, Dedhia, N, Blöcker, H, Hornischer, K, Nordsiek, G, Agarwala, R, Aravind, L, Bailey, JA, Bateman, A, Batzoglou, S, Birney, E, Bork, P, Brown, DG, Burge, CB, Cerutti, L, Chen, HC, Church, D, Clamp, M, Copley, RR, Doerks, T, Eddy, SR, Eichler, EE, Furey, TS, Galagan, J, Gilbert, JG, Harmon, C, Hayashizaki, Y, Haussler, D, Hermjakob, H, Hokamp, K, Jang, W, Johnson, LS, Jones, TA, Kasif, S, Kaspryzk, A, Kennedy, S, Kent, WJ, Kitts, P, Koonin, EV, Korf, I, Kulp, D, Lancet, D, Lowe, TM, McLysaght, A, Mikkelsen, T, Moran, JV, Mulder, N, Pollara, VJ, Ponting, CP, Schuler, G, Schultz, J, Slater, G, Smit, AF, Stupka, E, Szustakowski, J, Thierry-Mieg, D, Thierry-Mieg, J, Wagner, L, Wallis, J, Wheeler, R, Williams, A, Wolf, YI, Wolfe, KH, Yang, SP, Yeh, RF, Collins, F, Guyer, MS, Peterson, J, Felsenfeld, A, Wetterstrand, KA, Patrinos, A, Morgan, MJ, de Jong, P, Catanese, JJ, Osoegawa, K, Shizuya, H, Choi, S, Chen, YJ, and Szustakowki, J
Subjects: Genetics, Cancer genome sequencing, Chimpanzee genome project, Multidisciplinary, Cancer Genome Project, Gene density, DNA sequencing theory, Hybrid genome assembly, Computational biology, Biology, Genome, Personal genomics
Abstract: The human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution. Here we report the results of an international collaboration to produce and make freely available a draft sequence of the human genome. We also present an initial analysis of the data, describing some of the insights that can be gleaned from the sequence.
Published: 2016
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11. The zebrafish reference genome sequence and its relationship to the human genome.

Author: Howe, K., Clark, M.D., Torroja, C.F., Torrance, J., Berthelot, C., Muffato, M., Collins, J.E., Humphray, S., McLaren, K., Matthews, L., McLaren, S., Sealy, I., Caccamo, M., Churcher, C., Scott, C., Barrett, J.C., Koch, R., Rauch, G.J., White, S., Chow, W., Kilian, B., Quintais, L.T., Guerra-Assuncao, J.A., Zhou, Y., Gu, Y., Yen, J., Vogel, J.H., Eyre, T., Redmond, S., Banerjee, R., Chi, J., Fu, B., Langley, E., Maguire, S.F., Laird, G.K., Lloyd, D., Kenyon, E., Donaldson, S., Sehra, H., Almeida-King, J., Loveland, J., Trevanion, S., Jones, M., Quail, M., Willey, D., Hunt, A., Burton, J., Sims, S., McLay, K., Plumb, B., Davis, J., Clee, C., Oliver, K., Clark, R., Riddle, C., Elliot, D., Threadgold, G., Harden, G., Ware, D., Mortimore, B., Kerry, G., Heath, P., Phillimore, B., Tracey, A., Corby, N., Dunn, M., Johnson, C., Wood, J., Clark, S., Pelan, S., Griffiths, G., Smith, M., Glithero, R., Howden, P., Barker, N., Stevens, C., Harley, J., Holt, K., Panagiotidis, G., Lovell, J., Beasley, H., Henderson, C., Gordon, D., Auger, K., Wright, D., Collins, J., Raisen, C., Dyer, L., Leung, K., Robertson, L., Ambridge, K., Leongamornlert, D., McGuire, S., Gilderthorp, R., Griffiths, C., Manthravadi, D., Nichol, S., Barker, G., Whitehead, S., Kay, M., Brown, J., Murnane, C., Gray, E., Humphries, M., Sycamore, N., Barker, D., Saunders, D., Wallis, J., Babbage, A., Hammond, S., Mashreghi-Mohammadi, M., Barr, L., Martin, S., Wray, P., Ellington, A., Matthews, N., Ellwood, M., Woodmansey, R., Clark, G., Cooper, J., Tromans, A., Grafham, D., Skuce, C., Pandian, R., Andrews, R., Harrison, E., Kimberley, A., Garnett, J., Fosker, N., Hall, R., Garner, P., Kelly, D., Bird, C., Palmer, S., Gehring, I., Berger, A., Dooley, C.M., Ersan-Urun, Z., Eser, C., Geiger, H., Geisler, M., Karotki, L., Kirn, A., Konantz, J., Konantz, M., Oberlander, M., Rudolph-Geiger, S., Teucke, M., Osoegawa, K., Zhu, B., rapp, A., Widaa, S., Langford, C., Yang, F., Carter, N.P., Harrow, J., Ning, Z., Herrero, J., Searle, S.M., Enright, A., Geisler, R., Plasterk, R.H.A., Lee, C., Westerfield, M., de Jong, P.J., Zon, L.I., Postlethwait, J.H., Nusslein-Volhard, C., Hubbard, T.J., Roest Crollius, H., Rogers, J., Stemple, D.L., Begum, S., Lloyd, C., Lanz, C., Raddatz, G., Schuster, S.C., Howe, K., Clark, M.D., Torroja, C.F., Torrance, J., Berthelot, C., Muffato, M., Collins, J.E., Humphray, S., McLaren, K., Matthews, L., McLaren, S., Sealy, I., Caccamo, M., Churcher, C., Scott, C., Barrett, J.C., Koch, R., Rauch, G.J., White, S., Chow, W., Kilian, B., Quintais, L.T., Guerra-Assuncao, J.A., Zhou, Y., Gu, Y., Yen, J., Vogel, J.H., Eyre, T., Redmond, S., Banerjee, R., Chi, J., Fu, B., Langley, E., Maguire, S.F., Laird, G.K., Lloyd, D., Kenyon, E., Donaldson, S., Sehra, H., Almeida-King, J., Loveland, J., Trevanion, S., Jones, M., Quail, M., Willey, D., Hunt, A., Burton, J., Sims, S., McLay, K., Plumb, B., Davis, J., Clee, C., Oliver, K., Clark, R., Riddle, C., Elliot, D., Threadgold, G., Harden, G., Ware, D., Mortimore, B., Kerry, G., Heath, P., Phillimore, B., Tracey, A., Corby, N., Dunn, M., Johnson, C., Wood, J., Clark, S., Pelan, S., Griffiths, G., Smith, M., Glithero, R., Howden, P., Barker, N., Stevens, C., Harley, J., Holt, K., Panagiotidis, G., Lovell, J., Beasley, H., Henderson, C., Gordon, D., Auger, K., Wright, D., Collins, J., Raisen, C., Dyer, L., Leung, K., Robertson, L., Ambridge, K., Leongamornlert, D., McGuire, S., Gilderthorp, R., Griffiths, C., Manthravadi, D., Nichol, S., Barker, G., Whitehead, S., Kay, M., Brown, J., Murnane, C., Gray, E., Humphries, M., Sycamore, N., Barker, D., Saunders, D., Wallis, J., Babbage, A., Hammond, S., Mashreghi-Mohammadi, M., Barr, L., Martin, S., Wray, P., Ellington, A., Matthews, N., Ellwood, M., Woodmansey, R., Clark, G., Cooper, J., Tromans, A., Grafham, D., Skuce, C., Pandian, R., Andrews, R., Harrison, E., Kimberley, A., Garnett, J., Fosker, N., Hall, R., Garner, P., Kelly, D., Bird, C., Palmer, S., Gehring, I., Berger, A., Dooley, C.M., Ersan-Urun, Z., Eser, C., Geiger, H., Geisler, M., Karotki, L., Kirn, A., Konantz, J., Konantz, M., Oberlander, M., Rudolph-Geiger, S., Teucke, M., Osoegawa, K., Zhu, B., rapp, A., Widaa, S., Langford, C., Yang, F., Carter, N.P., Harrow, J., Ning, Z., Herrero, J., Searle, S.M., Enright, A., Geisler, R., Plasterk, R.H.A., Lee, C., Westerfield, M., de Jong, P.J., Zon, L.I., Postlethwait, J.H., Nusslein-Volhard, C., Hubbard, T.J., Roest Crollius, H., Rogers, J., Stemple, D.L., Begum, S., Lloyd, C., Lanz, C., Raddatz, G., and Schuster, S.C.
Abstract: Zebrafish have become a popular organism for the study of vertebrate gene function. The virtually transparent embryos of this species, and the ability to accelerate genetic studies by gene knockdown or overexpression, have led to the widespread use of zebrafish in the detailed investigation of vertebrate gene function and increasingly, the study of human genetic disease. However, for effective modelling of human genetic disease it is important to understand the extent to which zebrafish genes and gene structures are related to orthologous human genes. To examine this, we generated a high-quality sequence assembly of the zebrafish genome, made up of an overlapping set of completely sequenced large-insert clones that were ordered and oriented using a high-resolution high-density meiotic map. Detailed automatic and manual annotation provides evidence of more than 26,000 protein-coding genes, the largest gene set of any vertebrate so far sequenced. Comparison to the human reference genome shows that approximately 70% of human genes have at least one obvious zebrafish orthologue. In addition, the high quality of this genome assembly provides a clearer understanding of key genomic features such as a unique repeat content, a scarcity of pseudogenes, an enrichment of zebrafish-specific genes on chromosome 4 and chromosomal regions that influence sex determination., Zebrafish have become a popular organism for the study of vertebrate gene function. The virtually transparent embryos of this species, and the ability to accelerate genetic studies by gene knockdown or overexpression, have led to the widespread use of zebrafish in the detailed investigation of vertebrate gene function and increasingly, the study of human genetic disease. However, for effective modelling of human genetic disease it is important to understand the extent to which zebrafish genes and gene structures are related to orthologous human genes. To examine this, we generated a high-quality sequence assembly of the zebrafish genome, made up of an overlapping set of completely sequenced large-insert clones that were ordered and oriented using a high-resolution high-density meiotic map. Detailed automatic and manual annotation provides evidence of more than 26,000 protein-coding genes, the largest gene set of any vertebrate so far sequenced. Comparison to the human reference genome shows that approximately 70% of human genes have at least one obvious zebrafish orthologue. In addition, the high quality of this genome assembly provides a clearer understanding of key genomic features such as a unique repeat content, a scarcity of pseudogenes, an enrichment of zebrafish-specific genes on chromosome 4 and chromosomal regions that influence sex determination.
Published: 2013

12. Transcriptional regulation of the stem cell leukaemia gene - comparative analysis of five vertebrate SCL loci

Author: Göttgens, B., Barton, L., Chapman, M., Sinclair, A., Knudsen, B., Grafham, D., nullJ., Gilbert, Rogers, J., Bentley, D., and Green, A.
Published: 2002

13. Initial sequencing and analysis of the human genome

Author: Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI 48109 USA, Univ Michigan, Sch Med, Dept Internal Med, Ann Arbor, MI 48109 USA, Whitehead Inst Biomed Res, Ctr Genome Res, Cambridge, MA 02142 USA, Sanger Ctr, Hinxton CB10 1RQ, Cambs, England, Washington Univ, Genome Sequencing Ctr, St Louis, MO 63108 USA, US DOE, Joint Genome Inst, Walnut Creek, CA 94598 USA, Baylor Coll Med, Human Genome Sequencing Ctr, Dept Mol & Human Genet, Houston, TX 77030 USA, Univ Texas, Hlth Sci Ctr, Dept Cellular & Struct Biol, San Antonio, TX 78229 USA, Yeshiva Univ Albert Einstein Coll Med, Dept Mol Genet, Bronx, NY 10461 USA, Univ Texas, Sch Med, Dept Microbiol & Mol Genet, Houston, TX 77225 USA, RIKEN, Genom Sci Ctr, Tsurumi Ku, Yokohama, Kanagawa 2300045, Japan, Genoscope, F-91057 Evry, France, CNRS, UMR 8030, F-91057 Evry, France, Genome Therapeut Corp, GTC Sequencing Ctr, Waltham, MA 02453 USA, Inst Mol Biotechnol, Dept Genome Anal, D-07745 Jena, Germany, Chinese Acad Sci, Inst Genet, Ctr Human Genome, Beijing Genom Inst, Beijing 100101, Peoples R China, So China Natl Human Genome Res Ctr, Shanghai 201203, Peoples R China, No China Natl Human Genome Res Ctr, Beijing 100176, Peoples R China, Inst Syst Biol, Multimegabase Sequencing Ctr, Seattle, WA 98105 USA, Stanford Genome Technol Ctr, Palo Alto, CA 94304 USA, Stanford Univ, Dept Genet, Sch Med, Stanford, CA 94305 USA, Stanford Univ, Stanford Human Genome Ctrr, Sch Med, Stanford, CA 94305 USA, Univ Washington, Genome Ctr, Seattle, WA 98195 USA, Keio Univ, Sch Med, Dept Biol Mol, Shinjuku Ku, Tokyo 1608582, Japan, Univ Texas, SW Med Ctr, Dallas, TX 75235 USA, Univ Oklahoma, Adv Ctr Genome Technol, Dept Chem & Biochem, Norman, OK 73019 USA, Max Planck Inst Mol Genet, D-14195 Berlin, Germany, Cold Spring Harbor Lab, Lita Annenberg Hazen Genome Ctr, Cold Spring Harbor, NY 11724 USA, GBF, German Res Ctr Biotechnol, D-38124 Braunschweig, Germany, NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA, Case Western Reserve Univ, Sch Med, Dept Genet, Cleveland, OH 44106 USA, Univ Hosp Cleveland, Cleveland, OH 44106 USA, EMBL, European Bioinformat Inst, Cambridge CB10 1SD, England, Max Delbruck Ctr Mol Med, D-13125 Berlin, Germany, MIT, Dept Biol, Cambridge, MA 02139 USA, Washington Univ, Sch Med, Dept Genet, St Louis, MO 63110 USA, Univ Calif Santa Cruz, Dept Comp Sci, Santa Cruz, CA 95064 USA, Affymetrix Inc, Berkeley, CA 94710 USA, RIKEN, Yokoham Inst, Genom Sci Ctr, Genom Explorat Res Grp, Tsurumi Ku, Kanagawa 2300045, Japan, Univ Calif Santa Cruz, Dept Comp Sci, Howard Hughes Med Inst, Santa Cruz, CA 95064 USA, Univ Dublin Trinity Coll, Dept Genet, Smurfit Inst, Dublin 2, Ireland, Compaq Comp Corp, Cambridge Res Lab, Cambridge, MA 02142 USA, MIT, Genome Ctr, Cambridge, MA 02142 USA, Univ Calif Santa Cruz, Dept Math, Santa Cruz, CA 95064 USA, Univ Calif Santa Cruz, Dept Biol, Santa Cruz, CA 95064 USA, Weizmann Inst Sci, Crown Human Genet Ctr, IL-71600 Rehovot, Israel, Weizmann Inst Sci, Dept Mol Genet, IL-71600 Rehovot, Israel, Univ Oxford, Dept Human Anat & Genet, MRC, Funct Genet Unit, Oxford OX1 3QX, England, Inst Syst Biol, Seattle, WA 98105 USA, NHGRI, NIH, Bethesda, MD 20892 USA, US Dept Energy, Off Sci, Germantown, MD 20874 USA, Wellcome Trust, London NW1 2BE, England, Lander, E.S., Linton, L.M., Birren, B., Nusbaum, C., Zody, M.C., Baldwin, J., Devon, K., Dewar, K., Doyle, M., FitzHugh, W., Funke, R., Gage, D., Harris, K., Heaford, A., Howland, J., Kann, L., Lehoczky, J., LeVine, R., McEwan, P., McKernan, K., Meldrim, J., Mesirov, J.P., Miranda, C., Morris, W., Naylor, J., Raymond, C., Rosetti, M., Santos, R., Sheridan, A., Sougnez, C., Stange-Thomann, N., Stojanovic, N., Subramanian, A., Wyman, D., Rogers, J., Sulston, J., Ainscough, R., Beck, S., Bentley, D., Burton, J., Clee, C., Carter, N., Coulson, A., Deadman, R., Deloukas, P., Dunham, A., Dunham, I., Durbin, R., French, L., Grafham, D., Gregory, S., Hubbard, T., Humphray, S., Hunt, A., Jones, M., Lloyd, C., McMurray, A., Matthews, L., Mercer, S., Milne, S., Mullikin, J.C., Mungall, A., Plumb, R., Ross, M., Shownkeen, R., Sims, S., Waterston, R.H., Wilson, R.K., Hillier, L.W., McPherson, John D., Marra, M.A., Mardis, E.R., Fulton, L.A., Chinwalla, A.T., Pepin, K.H., Gish, W.R., Chissoe, S.L., Wendl, M.C., Delehaunty, K.D., Miner, T.L., Delehaunty, A., Kramer, J.B., Cook, L.L., Fulton, R.S., Johnson, D.L., Minx, P.J., Clifton, S.W., Hawkins, T., Branscomb, E., Predki, P., Richardson, P., Wenning, S., Slezak, T., Doggett, N., Cheng, J.F., Olsen, A., Lucas, S., Elkin, C., Uberbacher, E.C., Frazier, M., Gibbs, R.A., Muzny, D.M., Scherer, S.E., Bouck, J.B., Sodergren, E.J., Worley, K.C., Rives, C.M., Gorrell, J.H., Metzker, M.L., Naylor, S.L., Kucherlapati, R.S., Nelson, D.L., Weinstock, G.M., Sakaki, Y., Fujiyama, A., Hattori, M., Yada, T., Toyoda, A., Itoh, T., Kawagoe, C., Watanabe, H., Totoki, Y., Taylor, T., Weissenbach, J., Heilig, R., Saurin, W., Artiguenave, F., Brottier, P., Bruls, T., Pelletier, E., Robert, C., Wincker, P., Rosenthal, A., Platzer, M., Nyakatura, G., Taudien, S., Rump, A., Yang, H.M., Yu, J., Wang, J., Huang, G.Y., Gu, J., Hood, L., Rowen, L., Madan, A., Qin, S.Z., Davis, R.W., Federspiel, N.A., Abola, A.P., Proctor, M.J., Myers, R.M., Schmutz, J., Dickson, M., Grimwood, J., Cox, D.R., Olson, M.V., Kaul, R., Shimizu, N., Kawasaki, K., Minoshima, S., Evans, G.A., Athanasiou, M., Schultz, R., Roe, B.A., Chen, F., Pan, H.Q., Ramser, J., Lehrach, H., Reinhardt, R., McCombie, W.R., De la Bastide, M., Dedhia, N., Blocker, H., Hornischer, K., Nordsiek, G., Agarwala, R., Aravind, L., Bailey, J.A., Bateman, A., Batzoglou, S., Birney, E., Bork, P., Brown, D.G., Burge, C.B., Cerutti, L., Chen, H.C., Church, D., Clamp, M., Copley, R.R., Doerks, T., Eddy, S.R., Eichler, E.E., Furey, T.S., Galagan, J., Gilbert, Jgr, Harmon, C., Hayashizaki, Y., Haussler, D., Hermjakob, H., Hokamp, K., Jang, W.H., Johnson, L.S., Jones, T.A., Kasif, S., Kaspryzk, A., Kennedy, S., Kent, W.J., Kitts, P., Koonin, E.V., Korf, I., Kulp, D., Lancet, D., Lowe, T.M., McLysaght, A., Mikkelsen, T., Moran, J.V., Mulder, N., Pollara, V.J., Ponting, C.P., Schuler, G., Schultz, J.R., Slater, G., Smit, A.F.A., Stupka, E., Szustakowki, J., Thierry-Mieg, D., Thierry-Mieg, J., Wagner, L., Wallis, J., Wheeler, R., Williams, A., Wolf, Y.I., Wolfe, K.H., Yang, S.P., Yeh, R.F., Collins, F., Guyer, M.S., Peterson, J., Felsenfeld, A., Wetterstrand, K.A., Patrinos, A., Morgan, M.J., Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI 48109 USA, Univ Michigan, Sch Med, Dept Internal Med, Ann Arbor, MI 48109 USA, Whitehead Inst Biomed Res, Ctr Genome Res, Cambridge, MA 02142 USA, Sanger Ctr, Hinxton CB10 1RQ, Cambs, England, Washington Univ, Genome Sequencing Ctr, St Louis, MO 63108 USA, US DOE, Joint Genome Inst, Walnut Creek, CA 94598 USA, Baylor Coll Med, Human Genome Sequencing Ctr, Dept Mol & Human Genet, Houston, TX 77030 USA, Univ Texas, Hlth Sci Ctr, Dept Cellular & Struct Biol, San Antonio, TX 78229 USA, Yeshiva Univ Albert Einstein Coll Med, Dept Mol Genet, Bronx, NY 10461 USA, Univ Texas, Sch Med, Dept Microbiol & Mol Genet, Houston, TX 77225 USA, RIKEN, Genom Sci Ctr, Tsurumi Ku, Yokohama, Kanagawa 2300045, Japan, Genoscope, F-91057 Evry, France, CNRS, UMR 8030, F-91057 Evry, France, Genome Therapeut Corp, GTC Sequencing Ctr, Waltham, MA 02453 USA, Inst Mol Biotechnol, Dept Genome Anal, D-07745 Jena, Germany, Chinese Acad Sci, Inst Genet, Ctr Human Genome, Beijing Genom Inst, Beijing 100101, Peoples R China, So China Natl Human Genome Res Ctr, Shanghai 201203, Peoples R China, No China Natl Human Genome Res Ctr, Beijing 100176, Peoples R China, Inst Syst Biol, Multimegabase Sequencing Ctr, Seattle, WA 98105 USA, Stanford Genome Technol Ctr, Palo Alto, CA 94304 USA, Stanford Univ, Dept Genet, Sch Med, Stanford, CA 94305 USA, Stanford Univ, Stanford Human Genome Ctrr, Sch Med, Stanford, CA 94305 USA, Univ Washington, Genome Ctr, Seattle, WA 98195 USA, Keio Univ, Sch Med, Dept Biol Mol, Shinjuku Ku, Tokyo 1608582, Japan, Univ Texas, SW Med Ctr, Dallas, TX 75235 USA, Univ Oklahoma, Adv Ctr Genome Technol, Dept Chem & Biochem, Norman, OK 73019 USA, Max Planck Inst Mol Genet, D-14195 Berlin, Germany, Cold Spring Harbor Lab, Lita Annenberg Hazen Genome Ctr, Cold Spring Harbor, NY 11724 USA, GBF, German Res Ctr Biotechnol, D-38124 Braunschweig, Germany, NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA, Case Western Reserve Univ, Sch Med, Dept Genet, Cleveland, OH 44106 USA, Univ Hosp Cleveland, Cleveland, OH 44106 USA, EMBL, European Bioinformat Inst, Cambridge CB10 1SD, England, Max Delbruck Ctr Mol Med, D-13125 Berlin, Germany, MIT, Dept Biol, Cambridge, MA 02139 USA, Washington Univ, Sch Med, Dept Genet, St Louis, MO 63110 USA, Univ Calif Santa Cruz, Dept Comp Sci, Santa Cruz, CA 95064 USA, Affymetrix Inc, Berkeley, CA 94710 USA, RIKEN, Yokoham Inst, Genom Sci Ctr, Genom Explorat Res Grp, Tsurumi Ku, Kanagawa 2300045, Japan, Univ Calif Santa Cruz, Dept Comp Sci, Howard Hughes Med Inst, Santa Cruz, CA 95064 USA, Univ Dublin Trinity Coll, Dept Genet, Smurfit Inst, Dublin 2, Ireland, Compaq Comp Corp, Cambridge Res Lab, Cambridge, MA 02142 USA, MIT, Genome Ctr, Cambridge, MA 02142 USA, Univ Calif Santa Cruz, Dept Math, Santa Cruz, CA 95064 USA, Univ Calif Santa Cruz, Dept Biol, Santa Cruz, CA 95064 USA, Weizmann Inst Sci, Crown Human Genet Ctr, IL-71600 Rehovot, Israel, Weizmann Inst Sci, Dept Mol Genet, IL-71600 Rehovot, Israel, Univ Oxford, Dept Human Anat & Genet, MRC, Funct Genet Unit, Oxford OX1 3QX, England, Inst Syst Biol, Seattle, WA 98105 USA, NHGRI, NIH, Bethesda, MD 20892 USA, US Dept Energy, Off Sci, Germantown, MD 20874 USA, Wellcome Trust, London NW1 2BE, England, Lander, E.S., Linton, L.M., Birren, B., Nusbaum, C., Zody, M.C., Baldwin, J., Devon, K., Dewar, K., Doyle, M., FitzHugh, W., Funke, R., Gage, D., Harris, K., Heaford, A., Howland, J., Kann, L., Lehoczky, J., LeVine, R., McEwan, P., McKernan, K., Meldrim, J., Mesirov, J.P., Miranda, C., Morris, W., Naylor, J., Raymond, C., Rosetti, M., Santos, R., Sheridan, A., Sougnez, C., Stange-Thomann, N., Stojanovic, N., Subramanian, A., Wyman, D., Rogers, J., Sulston, J., Ainscough, R., Beck, S., Bentley, D., Burton, J., Clee, C., Carter, N., Coulson, A., Deadman, R., Deloukas, P., Dunham, A., Dunham, I., Durbin, R., French, L., Grafham, D., Gregory, S., Hubbard, T., Humphray, S., Hunt, A., Jones, M., Lloyd, C., McMurray, A., Matthews, L., Mercer, S., Milne, S., Mullikin, J.C., Mungall, A., Plumb, R., Ross, M., Shownkeen, R., Sims, S., Waterston, R.H., Wilson, R.K., Hillier, L.W., McPherson, John D., Marra, M.A., Mardis, E.R., Fulton, L.A., Chinwalla, A.T., Pepin, K.H., Gish, W.R., Chissoe, S.L., Wendl, M.C., Delehaunty, K.D., Miner, T.L., Delehaunty, A., Kramer, J.B., Cook, L.L., Fulton, R.S., Johnson, D.L., Minx, P.J., Clifton, S.W., Hawkins, T., Branscomb, E., Predki, P., Richardson, P., Wenning, S., Slezak, T., Doggett, N., Cheng, J.F., Olsen, A., Lucas, S., Elkin, C., Uberbacher, E.C., Frazier, M., Gibbs, R.A., Muzny, D.M., Scherer, S.E., Bouck, J.B., Sodergren, E.J., Worley, K.C., Rives, C.M., Gorrell, J.H., Metzker, M.L., Naylor, S.L., Kucherlapati, R.S., Nelson, D.L., Weinstock, G.M., Sakaki, Y., Fujiyama, A., Hattori, M., Yada, T., Toyoda, A., Itoh, T., Kawagoe, C., Watanabe, H., Totoki, Y., Taylor, T., Weissenbach, J., Heilig, R., Saurin, W., Artiguenave, F., Brottier, P., Bruls, T., Pelletier, E., Robert, C., Wincker, P., Rosenthal, A., Platzer, M., Nyakatura, G., Taudien, S., Rump, A., Yang, H.M., Yu, J., Wang, J., Huang, G.Y., Gu, J., Hood, L., Rowen, L., Madan, A., Qin, S.Z., Davis, R.W., Federspiel, N.A., Abola, A.P., Proctor, M.J., Myers, R.M., Schmutz, J., Dickson, M., Grimwood, J., Cox, D.R., Olson, M.V., Kaul, R., Shimizu, N., Kawasaki, K., Minoshima, S., Evans, G.A., Athanasiou, M., Schultz, R., Roe, B.A., Chen, F., Pan, H.Q., Ramser, J., Lehrach, H., Reinhardt, R., McCombie, W.R., De la Bastide, M., Dedhia, N., Blocker, H., Hornischer, K., Nordsiek, G., Agarwala, R., Aravind, L., Bailey, J.A., Bateman, A., Batzoglou, S., Birney, E., Bork, P., Brown, D.G., Burge, C.B., Cerutti, L., Chen, H.C., Church, D., Clamp, M., Copley, R.R., Doerks, T., Eddy, S.R., Eichler, E.E., Furey, T.S., Galagan, J., Gilbert, Jgr, Harmon, C., Hayashizaki, Y., Haussler, D., Hermjakob, H., Hokamp, K., Jang, W.H., Johnson, L.S., Jones, T.A., Kasif, S., Kaspryzk, A., Kennedy, S., Kent, W.J., Kitts, P., Koonin, E.V., Korf, I., Kulp, D., Lancet, D., Lowe, T.M., McLysaght, A., Mikkelsen, T., Moran, J.V., Mulder, N., Pollara, V.J., Ponting, C.P., Schuler, G., Schultz, J.R., Slater, G., Smit, A.F.A., Stupka, E., Szustakowki, J., Thierry-Mieg, D., Thierry-Mieg, J., Wagner, L., Wallis, J., Wheeler, R., Williams, A., Wolf, Y.I., Wolfe, K.H., Yang, S.P., Yeh, R.F., Collins, F., Guyer, M.S., Peterson, J., Felsenfeld, A., Wetterstrand, K.A., Patrinos, A., and Morgan, M.J.
Abstract: The human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution. Here we report the results of an international collaboration to produce and make freely available a draft sequence of the human genome. We also present an initial analysis of the data, describing some of the insights that can be gleaned from the sequence.
Published: 2009

14. Erratum: The DNA sequence and biological annotation of human chromosome 1

Author: Gregory, S. G., primary, Barlow, K. F., additional, McLay, K. E., additional, Kaul, R., additional, Swarbreck, D., additional, Dunham, A., additional, Scott, C. E., additional, Howe, K. L., additional, Woodfine, K., additional, Spencer, C. C. A., additional, Jones, M. C., additional, Gillson, C., additional, Searle, S., additional, Zhou, Y., additional, Kokocinski, F., additional, McDonald, L., additional, Evans, R., additional, Phillips, K., additional, Atkinson, A., additional, Cooper, R., additional, Jones, C., additional, Hall, R. E., additional, Andrews, T. D., additional, Lloyd, C., additional, Ainscough, R., additional, Almeida, J. P., additional, Ambrose, K. D., additional, Anderson, F., additional, Andrew, R. W., additional, Ashwell, R. I. S., additional, Aubin, K., additional, Babbage, A. K., additional, Bagguley, C. L., additional, Bailey, J., additional, Banerjee, R., additional, Beasley, H., additional, Bethel, G., additional, Bird, C. P., additional, Bray-Allen, S., additional, Brown, J. Y., additional, Brown, A. J., additional, Bryant, S. P., additional, Buckley, D., additional, Burford, D. C., additional, Burrill, W. D. H., additional, Burton, J., additional, Bye, J., additional, Carder, C., additional, Chapman, J. C., additional, Clark, S. Y., additional, Clarke, G., additional, Clee, C., additional, Clegg, S. M., additional, Cobley, V., additional, Collier, R. E., additional, Corby, N., additional, Coville, G. J., additional, Davies, J., additional, Deadman, R., additional, Dhami, P., additional, Dovey, O., additional, Dunn, M., additional, Earthrowl, M., additional, Ellington, A. G., additional, Errington, H., additional, Faulkner, L. M., additional, Frankish, A., additional, Frankland, J., additional, French, L., additional, Garner, P., additional, Garnett, J., additional, Gay, L., additional, Ghori, M. R. J., additional, Gibson, R., additional, Gilby, L. M., additional, Gillett, W., additional, Glithero, R. J., additional, Grafham, D. V., additional, Gribble, S. M., additional, Griffiths, C., additional, Griffiths-Jones, S., additional, Grocock, R., additional, Hammond, S., additional, Harrison, E. S. I., additional, Hart, E., additional, Haugen, E., additional, Heath, P. D., additional, Holmes, S., additional, Holt, K., additional, Howden, P. J., additional, Hunt, A. R., additional, Hunt, S. E., additional, Hunter, G., additional, Isherwood, J., additional, James, R., additional, Johnson, C., additional, Johnson, D., additional, Joy, A., additional, Kay, M., additional, Kershaw, J. K., additional, Kibukawa, M., additional, Kimberley, A. M., additional, King, A., additional, Knights, A. J., additional, Lad, H., additional, Laird, G., additional, Langford, C. F., additional, Lawlor, S., additional, Leongamornlert, D. A., additional, Lloyd, D. M., additional, Loveland, J., additional, Lovell, J., additional, Lush, M. J., additional, Lyne, R., additional, Martin, S., additional, Mashreghi-Mohammadi, M., additional, Matthews, L., additional, Matthews, N. S. W., additional, McLaren, S., additional, Milne, S., additional, Mistry, S., additional, oore, M. J. F. M., additional, Nickerson, T., additional, O'Dell, C. N., additional, Oliver, K., additional, Palmeiri, A., additional, Palmer, S. A., additional, Pandian, R. D., additional, Parker, A., additional, Patel, D., additional, Pearce, A. V., additional, Peck, A. I., additional, Pelan, S., additional, Phelps, K., additional, Phillimore, B. J., additional, Plumb, R., additional, Porter, K. M., additional, Prigmore, E., additional, Rajan, J., additional, Raymond, C., additional, Rouse, G., additional, Saenphimmachak, C., additional, Sehra, H. K., additional, Sheridan, E., additional, Shownkeen, R., additional, Sims, S., additional, Skuce, C. D., additional, Smith, M., additional, Steward, C., additional, Subramanian, S., additional, Sycamore, N., additional, Tracey, A., additional, Tromans, A., additional, Van Helmond, Z., additional, Wall J. M. Wallis, M., additional, White, S., additional, Whitehead, S. L., additional, Wilkinson, J. E., additional, Willey, D. L., additional, Williams, H., additional, Wilming, L., additional, Wray, P. W., additional, Wu, Z., additional, Coulson, A., additional, Vaudin, M., additional, Sulston, J. E., additional, Durbin, R., additional, Hubbard, T., additional, Wooster, R., additional, Dunham, I., additional, Carter, N. P., additional, McVean, G., additional, Ross, M. T., additional, Harrow, J., additional, Olson, M. V., additional, Beck, S., additional, Rogers, J., additional, and Bentley, D. R., additional
Published: 2006
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15. Canine RPGRIP1 mutation establishes cone–rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis

Author: Mellersh, C.S., primary, Boursnell, M.E.G., additional, Pettitt, L., additional, Ryder, E.J., additional, Holmes, N.G., additional, Grafham, D., additional, Forman, O.P., additional, Sampson, J., additional, Barnett, K.C., additional, Blanton, S., additional, Binns, M.M., additional, and Vaudin, M., additional
Published: 2006
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16. The DNA sequence of human chromosome 22

Author: Dunham, I., primary, Hunt, A. R., additional, Collins, J. E., additional, Bruskiewich, R., additional, Beare, D. M., additional, Clamp, M., additional, Smink, L. J., additional, Ainscough, R., additional, Almeida, J. P., additional, Babbage, A., additional, Bagguley, C., additional, Bailey, J., additional, Barlow, K., additional, Bates, K. N., additional, Beasley, O., additional, Bird, C. P., additional, Blakey, S., additional, Bridgeman, A. M., additional, Buck, D., additional, Burgess, J., additional, Burrill, W. D., additional, Burton, J., additional, Carder, C., additional, Carter, N. P., additional, Chen, Y., additional, Clark, G., additional, Clegg, S. M., additional, Cobley, V., additional, Cole, C. G., additional, Collier, R. E., additional, Connor, R. E., additional, Conroy, D., additional, Corby, N., additional, Coville, G. J., additional, Cox, A. V., additional, Davis, J., additional, Dawson, E., additional, Dhami, P. D., additional, Dockree, C., additional, Dodsworth, S. J., additional, Durbin, R. M., additional, Ellington, A., additional, Evans, K. L., additional, Fey, J. M., additional, Fleming, K., additional, French, L., additional, Garner, A. A., additional, Gilbert, J. G. R., additional, Goward, M. E., additional, Grafham, D., additional, Griffiths, M. N., additional, Hall, C., additional, Hall, R., additional, Hall-Tamlyn, G., additional, Heathcott, R. W., additional, Ho, S., additional, Holmes, S., additional, Hunt, S. E., additional, Jones, M. C., additional, Kershaw, J., additional, Kimberley, A., additional, King, A., additional, Laird, G. K., additional, Langford, C. F., additional, Leversha, M. A., additional, Lloyd, C., additional, Lloyd, D. M., additional, Martyn, I. D., additional, Mashreghi-Mohammadi, M., additional, Matthews, L., additional, McCann, O. T., additional, McClay, J., additional, McLaren, S., additional, McMurray, A. A., additional, Milne, S. A., additional, Mortimore, B. J., additional, Odell, C. N., additional, Pavitt, R., additional, Pearce, A. V., additional, Pearson, D., additional, Phillimore, B. J., additional, Phillips, S. H., additional, Plumb, R. W., additional, Ramsay, H., additional, Ramsey, Y., additional, Rogers, L., additional, Ross, M. T., additional, Scott, C. E., additional, Sehra, H. K., additional, Skuce, C. D., additional, Smalley, S., additional, Smith, M. L., additional, Soderlund, C., additional, Spragon, L., additional, Steward, C. A., additional, Sulston, J. E., additional, Swann, R. M., additional, Vaudin, M., additional, Wall, M., additional, Wallis, J. M., additional, Whiteley, M. N., additional, Willey, D., additional, Williams, L., additional, Williams, S., additional, Williamson, H., additional, Wilmer, T. E., additional, Wilming, L., additional, Wright, C. L., additional, Hubbard, T., additional, Bentley, D. R., additional, Beck, S., additional, Rogers, J., additional, Shimizu, N., additional, Minoshima, S., additional, Kawasaki, K., additional, Sasaki, T., additional, Asakawa, S., additional, Kudoh, J., additional, Shintani, A., additional, Shibuya, K., additional, Yoshizaki, Y., additional, Aoki, N., additional, Mitsuyama, S., additional, Roe, B. A., additional, Chen, F., additional, Chu, L., additional, Crabtree, J., additional, Deschamps, S., additional, Do, A., additional, Do, T., additional, Dorman, A., additional, Fang, F., additional, Fu, Y., additional, Hu, P., additional, Hua, A., additional, Kenton, S., additional, Lai, H., additional, Lao, H. I., additional, Lewis, J., additional, Lewis, S., additional, Lin, S.-P., additional, Loh, P., additional, Malaj, E., additional, Nguyen, T., additional, Pan, H., additional, Phan, S., additional, Qi, S., additional, Qian, Y., additional, Ray, L., additional, Ren, Q., additional, Shaull, S., additional, Sloan, D., additional, Song, L., additional, Wang, Q., additional, Wang, Y., additional, Wang, Z., additional, White, J., additional, Willingham, D., additional, Wu, H., additional, Yao, Z., additional, Zhan, M., additional, Zhang, G., additional, Chissoe, S., additional, Murray, J., additional, Miller, N., additional, Minx, P., additional, Fulton, R., additional, Johnson, D., additional, Bemis, G., additional, Bentley, D., additional, Bradshaw, H., additional, Bourne, S., additional, Cordes, M., additional, Du, Z., additional, Fulton, L., additional, Goela, D., additional, Graves, T., additional, Hawkins, J., additional, Hinds, K., additional, Kemp, K., additional, Latreille, P., additional, Layman, D., additional, Ozersky, P., additional, Rohlfing, T., additional, Scheet, P., additional, Walker, C., additional, Wamsley, A., additional, Wohldmann, P., additional, Pepin, K., additional, Nelson, J., additional, Korf, I., additional, Bedell, J. A., additional, Hillier, L., additional, Mardis, E., additional, Waterston, R., additional, Wilson, R., additional, Emanuel, B. S., additional, Shaikh, T., additional, Kurahashi, H., additional, Saitta, S., additional, Budarf, M. L., additional, McDermid, H. E., additional, Johnson, A., additional, Wong, A. C. C., additional, Morrow, B. E., additional, Edelmann, L., additional, Kim, U. J., additional, Shizuya, H., additional, Simon, M. I., additional, Dumanski, J. P., additional, Peyrard, M., additional, Kedra, D., additional, Seroussi, E., additional, Fransson, I., additional, Tapia, I., additional, Bruder, C. E., additional, and O'Brien, K. P., additional
Published: 1999
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17. Long-range comparison of human and mouse SCL loci: localized regions of sensitivity to restriction endonucleases correspond precisely with peaks of conserved noncoding sequences.

Author: Göttgens, B, Gilbert, J G, Barton, L M, Grafham, D, Rogers, J, Bentley, D R, and Green, A R
Abstract: Long-range comparative sequence analysis provides a powerful strategy for identifying conserved regulatory elements. The stem cell leukemia (SCL) gene encodes a bHLH transcription factor with a pivotal role in hemopoiesis and vasculogenesis, and it displays a highly conserved expression pattern. We present here a detailed sequence comparison of 193 kb of the human SCL locus to 234 kb of the mouse SCL locus. Four new genes have been identified together with an ancient mitochondrial insertion in the human locus. The SCL gene is flanked upstream by the SIL gene and downstream by the MAP17 gene in both species, but the gene order is not collinear downstream from MAP17. To facilitate rapid identification of candidate regulatory elements, we have developed a new sequence analysis tool (SynPlot) that automates the graphical display of large-scale sequence alignments. Unlike existing programs, SynPlot can display the locus features of more than one sequence, thereby indicating the position of homology peaks relative to the structure of all sequences in the alignment. In addition, high-resolution analysis of the chromatin structure of the mouse SCL gene permitted the accurate positioning of localized zones accessible to restriction endonucleases. Zones known to be associated with functional regulatory regions were found to correspond precisely with peaks of human/mouse homology, thus demonstrating that long-range human/mouse sequence comparisons allow accurate prediction of the extent of accessible DNA associated with active regulatory regions.
Published: 2001

18. Tdr2, a new zebrafish transposon of the Tc1 family

Author: Gottgens, B., Barton, L.M., Grafham, D., Vaudin, M., and Green, A.R.
Published: 1999
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19. SCR manual: including triacs and other thyristors

Author: Grafham, D R and Golden, Forest B
Subjects: Engineering
Published: 1979

20. Improving the full-bridge phase-shift ZVT converter for failure-free operation under extreme conditions in welding and similar applications

Author: Aigner, H., primary, Dierberger, K., additional, and Grafham, D., additional
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21. A smart power converter module for buck applications operating at high input power factor

Author: Agarwal, V., primary, Sundarsingh, V.P., additional, Bontemps, S., additional, and Grafham, D., additional
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22. A smart power converter module for buck applications operating at high input power factor.

Author: Agarwal, V., Sundarsingh, V.P., Bontemps, S., and Grafham, D.
Published: 2002
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23. Improving the full-bridge phase-shift ZVT converter for failure-free operation under extreme conditions in welding and similar applications.

Author: Aigner, H., Dierberger, K., and Grafham, D.
Published: 1998
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24. Next Generation Sequencing in Newborn Screening in the United Kingdom National Health Service.

Author: van Campen JC, Sollars ESA, Thomas RC, Bartlett CM, Milano A, Parker MD, Dawe J, Winship PR, Peck G, Grafham D, Kirk RJ, Bonham JR, Goodeve AC, and Dalton A
Abstract: Next generation DNA sequencing (NGS) has the potential to improve the diagnostic and prognostic utility of newborn screening programmes. This study assesses the feasibility of automating NGS on dried blood spot (DBS) DNA in a United Kingdom National Health Service (UK NHS) laboratory. An NGS panel targeting the entire coding sequence of five genes relevant to disorders currently screened for in newborns in the UK was validated on DBS DNA. An automated process for DNA extraction, NGS and bioinformatics analysis was developed. The process was tested on DBS to determine feasibility, turnaround time and cost. The analytical sensitivity of the assay was 100% and analytical specificity was 99.96%, with a mean 99.5% concordance of variant calls between DBS and venous blood samples in regions with ≥30× coverage (96.8% across all regions; all variant calls were single nucleotide variants (SNVs), with indel performance not assessed). The pipeline enabled processing of up to 1000 samples a week with a turnaround time of four days from receipt of sample to reporting. This study concluded that it is feasible to automate targeted NGS on routine DBS samples in a UK NHS laboratory setting, but it may not currently be cost effective as a first line test., Competing Interests: Conflicts of Interest: The authors declare no conflict of interest.
Published: 2019
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25. Genetic diversity of equine herpesvirus 1 isolated from neurological, abortigenic and respiratory disease outbreaks.

Author: Bryant NA, Wilkie GS, Russell CA, Compston L, Grafham D, Clissold L, McLay K, Medcalf L, Newton R, Davison AJ, and Elton DM
Subjects: Animals, Base Sequence, Brain Diseases virology, DNA, Viral genetics, DNA-Directed DNA Polymerase genetics, Disease Outbreaks veterinary, Equidae, Female, Herpesviridae Infections epidemiology, Herpesviridae Infections virology, Herpesvirus 1, Equid isolation & purification, Horse Diseases epidemiology, Horses, Phylogeny, Pregnancy, Respiration Disorders virology, United Kingdom, Abortion, Veterinary virology, Brain Diseases veterinary, Genetic Variation, Herpesviridae Infections veterinary, Herpesvirus 1, Equid genetics, Horse Diseases virology, Respiration Disorders veterinary
Abstract: Equine herpesvirus 1 (EHV-1) causes respiratory disease, abortion, neonatal death and neurological disease in equines and is endemic in most countries. The viral factors that influence EHV-1 disease severity are poorly understood, and this has hampered vaccine development. However, the N752D substitution in the viral DNA polymerase catalytic subunit has been shown statistically to be associated with neurological disease. This has given rise to the term "neuropathic strain," even though strains lacking the polymorphism have been recovered from cases of neurological disease. To broaden understanding of EHV-1 diversity in the field, 78 EHV-1 strains isolated over a period of 35 years were sequenced. The great majority of isolates originated from the United Kingdom and included in the collection were low passage isolates from respiratory, abortigenic and neurological outbreaks. Phylogenetic analysis of regions spanning 80% of the genome showed that up to 13 viral clades have been circulating in the United Kingdom and that most of these are continuing to circulate. Abortion isolates grouped into nine clades, and neurological isolates grouped into five. Most neurological isolates had the N752D substitution, whereas most abortion isolates did not, although three of the neurological isolates from linked outbreaks had a different polymorphism. Finally, bioinformatic analysis suggested that recombination has occurred between EHV-1 clades, between EHV-1 and equine herpesvirus 4, and between EHV-1 and equine herpesvirus 8., (© 2018 The Authors. Transboundary and Emerging Diseases Published by Blackwell Verlag GmbH.)
Published: 2018
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26. The pig X and Y Chromosomes: structure, sequence, and evolution.

Author: Skinner BM, Sargent CA, Churcher C, Hunt T, Herrero J, Loveland JE, Dunn M, Louzada S, Fu B, Chow W, Gilbert J, Austin-Guest S, Beal K, Carvalho-Silva D, Cheng W, Gordon D, Grafham D, Hardy M, Harley J, Hauser H, Howden P, Howe K, Lachani K, Ellis PJ, Kelly D, Kerry G, Kerwin J, Ng BL, Threadgold G, Wileman T, Wood JM, Yang F, Harrow J, Affara NA, and Tyler-Smith C
Subjects: Animals, Base Sequence, Cats genetics, Dogs genetics, Female, Gene Conversion, Gene Expression, Gene Library, Gene Order, Humans, Male, Molecular Sequence Data, Sequence Alignment, Sequence Analysis, DNA, Chromosomes, Mammalian genetics, Evolution, Molecular, Swine genetics, X Chromosome genetics, Y Chromosome genetics
Abstract: We have generated an improved assembly and gene annotation of the pig X Chromosome, and a first draft assembly of the pig Y Chromosome, by sequencing BAC and fosmid clones from Duroc animals and incorporating information from optical mapping and fiber-FISH. The X Chromosome carries 1033 annotated genes, 690 of which are protein coding. Gene order closely matches that found in primates (including humans) and carnivores (including cats and dogs), which is inferred to be ancestral. Nevertheless, several protein-coding genes present on the human X Chromosome were absent from the pig, and 38 pig-specific X-chromosomal genes were annotated, 22 of which were olfactory receptors. The pig Y-specific Chromosome sequence generated here comprises 30 megabases (Mb). A 15-Mb subset of this sequence was assembled, revealing two clusters of male-specific low copy number genes, separated by an ampliconic region including the HSFY gene family, which together make up most of the short arm. Both clusters contain palindromes with high sequence identity, presumably maintained by gene conversion. Many of the ancestral X-related genes previously reported in at least one mammalian Y Chromosome are represented either as active genes or partial sequences. This sequencing project has allowed us to identify genes--both single copy and amplified--on the pig Y Chromosome, to compare the pig X and Y Chromosomes for homologous sequences, and thereby to reveal mechanisms underlying pig X and Y Chromosome evolution., (© 2016 Skinner et al.; Published by Cold Spring Harbor Laboratory Press.)
Published: 2016
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27. The zebrafish reference genome sequence and its relationship to the human genome.

Author: Howe K, Clark MD, Torroja CF, Torrance J, Berthelot C, Muffato M, Collins JE, Humphray S, McLaren K, Matthews L, McLaren S, Sealy I, Caccamo M, Churcher C, Scott C, Barrett JC, Koch R, Rauch GJ, White S, Chow W, Kilian B, Quintais LT, Guerra-Assunção JA, Zhou Y, Gu Y, Yen J, Vogel JH, Eyre T, Redmond S, Banerjee R, Chi J, Fu B, Langley E, Maguire SF, Laird GK, Lloyd D, Kenyon E, Donaldson S, Sehra H, Almeida-King J, Loveland J, Trevanion S, Jones M, Quail M, Willey D, Hunt A, Burton J, Sims S, McLay K, Plumb B, Davis J, Clee C, Oliver K, Clark R, Riddle C, Elliot D, Threadgold G, Harden G, Ware D, Begum S, Mortimore B, Kerry G, Heath P, Phillimore B, Tracey A, Corby N, Dunn M, Johnson C, Wood J, Clark S, Pelan S, Griffiths G, Smith M, Glithero R, Howden P, Barker N, Lloyd C, Stevens C, Harley J, Holt K, Panagiotidis G, Lovell J, Beasley H, Henderson C, Gordon D, Auger K, Wright D, Collins J, Raisen C, Dyer L, Leung K, Robertson L, Ambridge K, Leongamornlert D, McGuire S, Gilderthorp R, Griffiths C, Manthravadi D, Nichol S, Barker G, Whitehead S, Kay M, Brown J, Murnane C, Gray E, Humphries M, Sycamore N, Barker D, Saunders D, Wallis J, Babbage A, Hammond S, Mashreghi-Mohammadi M, Barr L, Martin S, Wray P, Ellington A, Matthews N, Ellwood M, Woodmansey R, Clark G, Cooper J, Tromans A, Grafham D, Skuce C, Pandian R, Andrews R, Harrison E, Kimberley A, Garnett J, Fosker N, Hall R, Garner P, Kelly D, Bird C, Palmer S, Gehring I, Berger A, Dooley CM, Ersan-Ürün Z, Eser C, Geiger H, Geisler M, Karotki L, Kirn A, Konantz J, Konantz M, Oberländer M, Rudolph-Geiger S, Teucke M, Lanz C, Raddatz G, Osoegawa K, Zhu B, Rapp A, Widaa S, Langford C, Yang F, Schuster SC, Carter NP, Harrow J, Ning Z, Herrero J, Searle SM, Enright A, Geisler R, Plasterk RH, Lee C, Westerfield M, de Jong PJ, Zon LI, Postlethwait JH, Nüsslein-Volhard C, Hubbard TJ, Roest Crollius H, Rogers J, and Stemple DL
Subjects: Animals, Chromosomes genetics, Evolution, Molecular, Female, Genes genetics, Genome, Human genetics, Genomics, Humans, Male, Meiosis genetics, Molecular Sequence Annotation, Pseudogenes genetics, Reference Standards, Sex Determination Processes genetics, Zebrafish Proteins genetics, Conserved Sequence genetics, Genome genetics, Zebrafish genetics
Abstract: Zebrafish have become a popular organism for the study of vertebrate gene function. The virtually transparent embryos of this species, and the ability to accelerate genetic studies by gene knockdown or overexpression, have led to the widespread use of zebrafish in the detailed investigation of vertebrate gene function and increasingly, the study of human genetic disease. However, for effective modelling of human genetic disease it is important to understand the extent to which zebrafish genes and gene structures are related to orthologous human genes. To examine this, we generated a high-quality sequence assembly of the zebrafish genome, made up of an overlapping set of completely sequenced large-insert clones that were ordered and oriented using a high-resolution high-density meiotic map. Detailed automatic and manual annotation provides evidence of more than 26,000 protein-coding genes, the largest gene set of any vertebrate so far sequenced. Comparison to the human reference genome shows that approximately 70% of human genes have at least one obvious zebrafish orthologue. In addition, the high quality of this genome assembly provides a clearer understanding of key genomic features such as a unique repeat content, a scarcity of pseudogenes, an enrichment of zebrafish-specific genes on chromosome 4 and chromosomal regions that influence sex determination.
Published: 2013
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28. Modernizing reference genome assemblies.

Author: Church DM, Schneider VA, Graves T, Auger K, Cunningham F, Bouk N, Chen HC, Agarwala R, McLaren WM, Ritchie GR, Albracht D, Kremitzki M, Rock S, Kotkiewicz H, Kremitzki C, Wollam A, Trani L, Fulton L, Fulton R, Matthews L, Whitehead S, Chow W, Torrance J, Dunn M, Harden G, Threadgold G, Wood J, Collins J, Heath P, Griffiths G, Pelan S, Grafham D, Eichler EE, Weinstock G, Mardis ER, Wilson RK, Howe K, Flicek P, and Hubbard T
Subjects: Humans, International Cooperation, Databases, Genetic, Genome, Human
Abstract: Competing Interests: I have read the journal's policy and have the following conflicts: Paul Flicek is married to the deputy editor of PLoS Medicine, Melissa Norton. Evan Eichler is on the board of Pacific Biosciences.
Published: 2011
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29. Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin.

Author: Boles MK, Wilkinson BM, Wilming LG, Liu B, Probst FJ, Harrow J, Grafham D, Hentges KE, Woodward LP, Maxwell A, Mitchell K, Risley MD, Johnson R, Hirschi K, Lupski JR, Funato Y, Miki H, Marin-Garcia P, Matthews L, Coffey AJ, Parker A, Hubbard TJ, Rogers J, Bradley A, Adams DJ, and Justice MJ
Subjects: Animals, Chromosome Mapping, Exons, Genes, Lethal, Mice, Mice, Mutant Strains, Ethylnitrosourea pharmacology, Gene Expression Profiling, Mutation, Nuclear Proteins genetics, Oxidoreductases genetics
Abstract: An accurate and precisely annotated genome assembly is a fundamental requirement for functional genomic analysis. Here, the complete DNA sequence and gene annotation of mouse Chromosome 11 was used to test the efficacy of large-scale sequencing for mutation identification. We re-sequenced the 14,000 annotated exons and boundaries from over 900 genes in 41 recessive mutant mouse lines that were isolated in an N-ethyl-N-nitrosourea (ENU) mutation screen targeted to mouse Chromosome 11. Fifty-nine sequence variants were identified in 55 genes from 31 mutant lines. 39% of the lesions lie in coding sequences and create primarily missense mutations. The other 61% lie in noncoding regions, many of them in highly conserved sequences. A lesion in the perinatal lethal line l11Jus13 alters a consensus splice site of nucleoredoxin (Nxn), inserting 10 amino acids into the resulting protein. We conclude that point mutations can be accurately and sensitively recovered by large-scale sequencing, and that conserved noncoding regions should be included for disease mutation identification. Only seven of the candidate genes we report have been previously targeted by mutation in mice or rats, showing that despite ongoing efforts to functionally annotate genes in the mammalian genome, an enormous gap remains between phenotype and function. Our data show that the classical positional mapping approach of disease mutation identification can be extended to large target regions using high-throughput sequencing., Competing Interests: The authors have declared that no competing interests exist.
Published: 2009
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30. Genomics. Genome project standards in a new era of sequencing.

Author: Chain PS, Grafham DV, Fulton RS, Fitzgerald MG, Hostetler J, Muzny D, Ali J, Birren B, Bruce DC, Buhay C, Cole JR, Ding Y, Dugan S, Field D, Garrity GM, Gibbs R, Graves T, Han CS, Harrison SH, Highlander S, Hugenholtz P, Khouri HM, Kodira CD, Kolker E, Kyrpides NC, Lang D, Lapidus A, Malfatti SA, Markowitz V, Metha T, Nelson KE, Parkhill J, Pitluck S, Qin X, Read TD, Schmutz J, Sozhamannan S, Sterk P, Strausberg RL, Sutton G, Thomson NR, Tiedje JM, Weinstock G, Wollam A, and Detter JC
Subjects: Computational Biology, Databases, Nucleic Acid standards, Genome, Genomics standards, Sequence Analysis, DNA standards
Published: 2009
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31. Analysis of multiple genomic sequence alignments: a web resource, online tools, and lessons learned from analysis of mammalian SCL loci.

Author: Chapman MA, Donaldson IJ, Gilbert J, Grafham D, Rogers J, Green AR, and Göttgens B
Subjects: Animals, Dogs, Genes, Neoplasm genetics, Genomics methods, Humans, Leukemia enzymology, Mice, Molecular Sequence Data, Rats, Research Design, Databases, Genetic trends, Genetic Markers genetics, Genome, Genome, Human, Internet trends, Leukemia genetics, Lyases genetics, Online Systems trends, Sequence Alignment methods
Abstract: Comparative analysis of genomic sequences is becoming a standard technique for studying gene regulation. However, only a limited number of tools are currently available for the analysis of multiple genomic sequences. An extensive data set for the testing and training of such tools is provided by the SCL gene locus. Here we have expanded the data set to eight vertebrate species by sequencing the dog SCL locus and by annotating the dog and rat SCL loci. To provide a resource for the bioinformatics community, all SCL sequences and functional annotations, comprising a collation of the extensive experimental evidence pertaining to SCL regulation, have been made available via a Web server. A Web interface to new tools specifically designed for the display and analysis of multiple sequence alignments was also implemented. The unique SCL data set and new sequence comparison tools allowed us to perform a rigorous examination of the true benefits of multiple sequence comparisons. We demonstrate that multiple sequence alignments are, overall, superior to pairwise alignments for identification of mammalian regulatory regions. In the search for individual transcription factor binding sites, multiple alignments markedly increase the signal-to-noise ratio compared to pairwise alignments.
Published: 2004
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32. BAC finishing strategies.

Author: Bird C and Grafham D
Subjects: Base Sequence, Cloning, Molecular, Contig Mapping, DNA Primers, Databases, Nucleic Acid, Genome, Human, Humans, Nucleic Acid Conformation, Plasmids genetics, Sequence Analysis, DNA, Software Design, Chromosomes, Artificial, Bacterial genetics
Published: 2004
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33. Comparative and functional analyses of LYL1 loci establish marsupial sequences as a model for phylogenetic footprinting.

Author: Chapman MA, Charchar FJ, Kinston S, Bird CP, Grafham D, Rogers J, Grützner F, Graves JA, Green AR, and Göttgens B
Subjects: Amino Acid Sequence, Animals, Base Sequence, Basic Helix-Loop-Helix Transcription Factors, DNA, DNA-Binding Proteins chemistry, Models, Genetic, Molecular Sequence Data, Neoplasm Proteins chemistry, Promoter Regions, Genetic, Sequence Homology, Amino Acid, Sequence Homology, Nucleic Acid, Chromosome Mapping, DNA-Binding Proteins genetics, Marsupialia genetics, Neoplasm Proteins genetics, Phylogeny
Abstract: Comparative genomic sequence analysis is a powerful technique for identifying regulatory regions in genomic DNA. However, its utility largely depends on the evolutionary distances between the species involved. Here we describe the screening of a genomic BAC library from the stripe-faced dunnart, Sminthopsis macroura, formerly known as the narrow-footed marsupial mouse. We isolated a clone containing the LYL1 locus, completely sequenced the 60.6-kb insert, and compared it with orthologous human and mouse sequences. Noncoding homology was substantially reduced in the human/dunnart analysis compared with human/mouse, yet we could readily identify all promoters and exons. Human/mouse/dunnart alignments of the LYL1 candidate promoter allowed us to identify putative transcription factor binding sites, revealing a pattern highly reminiscent of critical regulatory regions of the LYL1 paralogue, SCL. This newly identified LYL1 promoter showed strong activity in myeloid progenitor cells and was bound in vivo by Fli1, Elf1, and Gata2-transcription factors all previously shown to bind to the SCL stem cell enhancer. This study represents the first large-scale comparative analysis involving marsupial genomic sequence and demonstrates that such comparisons provide a powerful approach to characterizing mammalian regulatory elements.
Published: 2003
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34. Initial sequencing and comparative analysis of the mouse genome.

Author: Waterston RH, Lindblad-Toh K, Birney E, Rogers J, Abril JF, Agarwal P, Agarwala R, Ainscough R, Alexandersson M, An P, Antonarakis SE, Attwood J, Baertsch R, Bailey J, Barlow K, Beck S, Berry E, Birren B, Bloom T, Bork P, Botcherby M, Bray N, Brent MR, Brown DG, Brown SD, Bult C, Burton J, Butler J, Campbell RD, Carninci P, Cawley S, Chiaromonte F, Chinwalla AT, Church DM, Clamp M, Clee C, Collins FS, Cook LL, Copley RR, Coulson A, Couronne O, Cuff J, Curwen V, Cutts T, Daly M, David R, Davies J, Delehaunty KD, Deri J, Dermitzakis ET, Dewey C, Dickens NJ, Diekhans M, Dodge S, Dubchak I, Dunn DM, Eddy SR, Elnitski L, Emes RD, Eswara P, Eyras E, Felsenfeld A, Fewell GA, Flicek P, Foley K, Frankel WN, Fulton LA, Fulton RS, Furey TS, Gage D, Gibbs RA, Glusman G, Gnerre S, Goldman N, Goodstadt L, Grafham D, Graves TA, Green ED, Gregory S, Guigó R, Guyer M, Hardison RC, Haussler D, Hayashizaki Y, Hillier LW, Hinrichs A, Hlavina W, Holzer T, Hsu F, Hua A, Hubbard T, Hunt A, Jackson I, Jaffe DB, Johnson LS, Jones M, Jones TA, Joy A, Kamal M, Karlsson EK, Karolchik D, Kasprzyk A, Kawai J, Keibler E, Kells C, Kent WJ, Kirby A, Kolbe DL, Korf I, Kucherlapati RS, Kulbokas EJ, Kulp D, Landers T, Leger JP, Leonard S, Letunic I, Levine R, Li J, Li M, Lloyd C, Lucas S, Ma B, Maglott DR, Mardis ER, Matthews L, Mauceli E, Mayer JH, McCarthy M, McCombie WR, McLaren S, McLay K, McPherson JD, Meldrim J, Meredith B, Mesirov JP, Miller W, Miner TL, Mongin E, Montgomery KT, Morgan M, Mott R, Mullikin JC, Muzny DM, Nash WE, Nelson JO, Nhan MN, Nicol R, Ning Z, Nusbaum C, O'Connor MJ, Okazaki Y, Oliver K, Overton-Larty E, Pachter L, Parra G, Pepin KH, Peterson J, Pevzner P, Plumb R, Pohl CS, Poliakov A, Ponce TC, Ponting CP, Potter S, Quail M, Reymond A, Roe BA, Roskin KM, Rubin EM, Rust AG, Santos R, Sapojnikov V, Schultz B, Schultz J, Schwartz MS, Schwartz S, Scott C, Seaman S, Searle S, Sharpe T, Sheridan A, Shownkeen R, Sims S, Singer JB, Slater G, Smit A, Smith DR, Spencer B, Stabenau A, Stange-Thomann N, Sugnet C, Suyama M, Tesler G, Thompson J, Torrents D, Trevaskis E, Tromp J, Ucla C, Ureta-Vidal A, Vinson JP, Von Niederhausern AC, Wade CM, Wall M, Weber RJ, Weiss RB, Wendl MC, West AP, Wetterstrand K, Wheeler R, Whelan S, Wierzbowski J, Willey D, Williams S, Wilson RK, Winter E, Worley KC, Wyman D, Yang S, Yang SP, Zdobnov EM, Zody MC, and Lander ES
Subjects: Animals, Base Composition, Conserved Sequence genetics, CpG Islands genetics, Gene Expression Regulation, Genes genetics, Genetic Variation genetics, Genome, Human, Genomics, Humans, Mice classification, Mice, Knockout, Mice, Transgenic, Models, Animal, Multigene Family genetics, Mutagenesis, Neoplasms genetics, Proteome genetics, Pseudogenes genetics, Quantitative Trait Loci genetics, RNA, Untranslated genetics, Repetitive Sequences, Nucleic Acid genetics, Selection, Genetic, Sequence Analysis, DNA, Sex Chromosomes genetics, Species Specificity, Synteny, Chromosomes, Mammalian genetics, Evolution, Molecular, Genome, Mice genetics, Physical Chromosome Mapping
Abstract: The sequence of the mouse genome is a key informational tool for understanding the contents of the human genome and a key experimental tool for biomedical research. Here, we report the results of an international collaboration to produce a high-quality draft sequence of the mouse genome. We also present an initial comparative analysis of the mouse and human genomes, describing some of the insights that can be gleaned from the two sequences. We discuss topics including the analysis of the evolutionary forces shaping the size, structure and sequence of the genomes; the conservation of large-scale synteny across most of the genomes; the much lower extent of sequence orthology covering less than half of the genomes; the proportions of the genomes under selection; the number of protein-coding genes; the expansion of gene families related to reproduction and immunity; the evolution of proteins; and the identification of intraspecies polymorphism.
Published: 2002
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35. Transcriptional regulation of the stem cell leukemia gene (SCL)--comparative analysis of five vertebrate SCL loci.

Author: Göttgens B, Barton LM, Chapman MA, Sinclair AM, Knudsen B, Grafham D, Gilbert JG, Rogers J, Bentley DR, and Green AR
Subjects: 5' Untranslated Regions genetics, Amino Acid Sequence, Animals, Basic Helix-Loop-Helix Transcription Factors, Cell Line, Chickens, Chromosomes, Artificial, P1 Bacteriophage genetics, Cloning, Molecular, Conserved Sequence, DNA-Binding Proteins biosynthesis, DNA-Binding Proteins metabolism, Exons genetics, Genetic Markers genetics, Genetic Markers physiology, Humans, Mice, Mice, Transgenic, Molecular Sequence Data, Poly A metabolism, Promoter Regions, Genetic genetics, Rats, Sequence Homology, Nucleic Acid, T-Cell Acute Lymphocytic Leukemia Protein 1, Tetraodontiformes, Transcription Factors biosynthesis, Transcription Factors chemistry, Zebrafish genetics, DNA-Binding Proteins genetics, Gene Expression Regulation, Neoplastic genetics, Leukemia-Lymphoma, Adult T-Cell genetics, Proto-Oncogene Proteins, Transcription Factors genetics, Zebrafish Proteins
Abstract: The stem cell leukemia (SCL) gene encodes a bHLH transcription factor with a pivotal role in hematopoiesis and vasculogenesis and a pattern of expression that is highly conserved between mammals and zebrafish. Here we report the isolation and characterization of the zebrafish SCL locus together with the identification of three neighboring genes, IER5, MAP17, and MUPP1. This region spans 68 kb and comprises the longest zebrafish genomic sequence currently available for comparison with mammalian, chicken, and pufferfish sequences. Our data show conserved synteny between zebrafish and mammalian SCL and MAP17 loci, thus suggesting the likely genomic domain necessary for the conserved pattern of SCL expression. Long-range comparative sequence analysis/phylogenetic footprinting was used to identify noncoding conserved sequences representing candidate transcriptional regulatory elements. The SCL promoter/enhancer, exon 1, and the poly(A) region were highly conserved, but no homology to other known mouse SCL enhancers was detected in the zebrafish sequence. A combined homology/structure analysis of the poly(A) region predicted consistent structural features, suggesting a conserved functional role in mRNA regulation. Analysis of the SCL promoter/enhancer revealed five motifs, which were conserved from zebrafish to mammals, and each of which is essential for the appropriate pattern or level of SCL transcription.
Published: 2002
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36. Regulation of the stem cell leukemia (SCL) gene: a tale of two fishes.

Author: Barton LM, Gottgens B, Gering M, Gilbert JG, Grafham D, Rogers J, Bentley D, Patient R, and Green AR
Subjects: Amino Acid Sequence, Animals, Animals, Genetically Modified, Basic Helix-Loop-Helix Transcription Factors, Chromosome Mapping, Female, Gene Expression Regulation, Gene Expression Regulation, Developmental, Gene Rearrangement, Molecular Sequence Data, Reverse Transcriptase Polymerase Chain Reaction, T-Cell Acute Lymphocytic Leukemia Protein 1, DNA-Binding Proteins genetics, Fishes genetics, Genes, Regulator, Helix-Loop-Helix Motifs, Proto-Oncogene Proteins, Transcription Factors, Zebrafish genetics, Zebrafish Proteins
Abstract: The stem cell leukemia (SCL) gene encodes a tissue-specific basic helix-loop-helix (bHLH) protein with a pivotal role in hemopoiesis and vasculogenesis. Several enhancers have been identified within the murine SCL locus that direct reporter gene expression to subdomains of the normal SCL expression pattern, and long-range sequence comparisons of the human and murine SCL loci have identified additional candidate enhancers. To facilitate the characterization of regulatory elements, we have sequenced and analyzed 33 kb of the SCL genomic locus from the pufferfish Fugu rubripes, a species with a highly compact genome. Although the pattern of SCL expression is highly conserved from mammals to teleost fish, the genes flanking pufferfish SCL were unrelated to those known to flank both avian and mammalian SCL genes. These data suggest that SCL regulatory elements are confined to the region between the upstream and downstream flanking genes, a region of 65 kb in human and 8.5 kb in pufferfish. Consistent with this hypothesis, the entire 33-kb pufferfish SCL locus directed appropriate expression to hemopoietic and neural tissue in transgenic zebrafish embryos, as did a 10.4-kb fragment containing the SCL gene and extending to the 5' and 3' flanking genes. These results demonstrate the power of combining the compact genome of the pufferfish with the advantages that zebrafish provide for studies of gene regulation during development. Furthermore, the pufferfish SCL locus provides a powerful tool for the manipulation of hemopoiesis and vasculogenesis in vivo.
Published: 2001
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37. Initial sequencing and analysis of the human genome.

Author: Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, FitzHugh W, Funke R, Gage D, Harris K, Heaford A, Howland J, Kann L, Lehoczky J, LeVine R, McEwan P, McKernan K, Meldrim J, Mesirov JP, Miranda C, Morris W, Naylor J, Raymond C, Rosetti M, Santos R, Sheridan A, Sougnez C, Stange-Thomann Y, Stojanovic N, Subramanian A, Wyman D, Rogers J, Sulston J, Ainscough R, Beck S, Bentley D, Burton J, Clee C, Carter N, Coulson A, Deadman R, Deloukas P, Dunham A, Dunham I, Durbin R, French L, Grafham D, Gregory S, Hubbard T, Humphray S, Hunt A, Jones M, Lloyd C, McMurray A, Matthews L, Mercer S, Milne S, Mullikin JC, Mungall A, Plumb R, Ross M, Shownkeen R, Sims S, Waterston RH, Wilson RK, Hillier LW, McPherson JD, Marra MA, Mardis ER, Fulton LA, Chinwalla AT, Pepin KH, Gish WR, Chissoe SL, Wendl MC, Delehaunty KD, Miner TL, Delehaunty A, Kramer JB, Cook LL, Fulton RS, Johnson DL, Minx PJ, Clifton SW, Hawkins T, Branscomb E, Predki P, Richardson P, Wenning S, Slezak T, Doggett N, Cheng JF, Olsen A, Lucas S, Elkin C, Uberbacher E, Frazier M, Gibbs RA, Muzny DM, Scherer SE, Bouck JB, Sodergren EJ, Worley KC, Rives CM, Gorrell JH, Metzker ML, Naylor SL, Kucherlapati RS, Nelson DL, Weinstock GM, Sakaki Y, Fujiyama A, Hattori M, Yada T, Toyoda A, Itoh T, Kawagoe C, Watanabe H, Totoki Y, Taylor T, Weissenbach J, Heilig R, Saurin W, Artiguenave F, Brottier P, Bruls T, Pelletier E, Robert C, Wincker P, Smith DR, Doucette-Stamm L, Rubenfield M, Weinstock K, Lee HM, Dubois J, Rosenthal A, Platzer M, Nyakatura G, Taudien S, Rump A, Yang H, Yu J, Wang J, Huang G, Gu J, Hood L, Rowen L, Madan A, Qin S, Davis RW, Federspiel NA, Abola AP, Proctor MJ, Myers RM, Schmutz J, Dickson M, Grimwood J, Cox DR, Olson MV, Kaul R, Raymond C, Shimizu N, Kawasaki K, Minoshima S, Evans GA, Athanasiou M, Schultz R, Roe BA, Chen F, Pan H, Ramser J, Lehrach H, Reinhardt R, McCombie WR, de la Bastide M, Dedhia N, Blöcker H, Hornischer K, Nordsiek G, Agarwala R, Aravind L, Bailey JA, Bateman A, Batzoglou S, Birney E, Bork P, Brown DG, Burge CB, Cerutti L, Chen HC, Church D, Clamp M, Copley RR, Doerks T, Eddy SR, Eichler EE, Furey TS, Galagan J, Gilbert JG, Harmon C, Hayashizaki Y, Haussler D, Hermjakob H, Hokamp K, Jang W, Johnson LS, Jones TA, Kasif S, Kaspryzk A, Kennedy S, Kent WJ, Kitts P, Koonin EV, Korf I, Kulp D, Lancet D, Lowe TM, McLysaght A, Mikkelsen T, Moran JV, Mulder N, Pollara VJ, Ponting CP, Schuler G, Schultz J, Slater G, Smit AF, Stupka E, Szustakowki J, Thierry-Mieg D, Thierry-Mieg J, Wagner L, Wallis J, Wheeler R, Williams A, Wolf YI, Wolfe KH, Yang SP, Yeh RF, Collins F, Guyer MS, Peterson J, Felsenfeld A, Wetterstrand KA, Patrinos A, Morgan MJ, de Jong P, Catanese JJ, Osoegawa K, Shizuya H, Choi S, Chen YJ, and Szustakowki J
Subjects: Animals, Chromosome Mapping, Conserved Sequence, CpG Islands, DNA Transposable Elements, Databases, Factual, Drug Industry, Evolution, Molecular, Forecasting, GC Rich Sequence, Gene Duplication, Genes, Genetic Diseases, Inborn, Genetics, Medical, Humans, Mutation, Private Sector, Proteins genetics, Proteome, Public Sector, RNA genetics, Repetitive Sequences, Nucleic Acid, Species Specificity, Genome, Human, Human Genome Project, Sequence Analysis, DNA methods
Abstract: The human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution. Here we report the results of an international collaboration to produce and make freely available a draft sequence of the human genome. We also present an initial analysis of the data, describing some of the insights that can be gleaned from the sequence.
Published: 2001
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38. Analysis of vertebrate SCL loci identifies conserved enhancers.

Author: Göttgens B, Barton LM, Gilbert JG, Bench AJ, Sanchez MJ, Bahn S, Mistry S, Grafham D, McMurray A, Vaudin M, Amaya E, Bentley DR, Green AR, and Sinclair AM
Subjects: Amino Acid Sequence, Animals, Animals, Genetically Modified, Base Sequence, Basic Helix-Loop-Helix Transcription Factors, Chickens, Helix-Loop-Helix Motifs, Humans, Mice, Molecular Sequence Data, Rhombencephalon embryology, Sequence Homology, Amino Acid, T-Cell Acute Lymphocytic Leukemia Protein 1, Xenopus, Conserved Sequence, DNA-Binding Proteins genetics, Enhancer Elements, Genetic, Proto-Oncogene Proteins, Transcription Factors genetics, Vertebrates genetics, Xenopus Proteins
Abstract: The SCL gene encodes a highly conserved bHLH transcription factor with a pivotal role in hemopoiesis and vasculogenesis. We have sequenced and analyzed 320 kb of genomic DNA composing the SCL loci from human, mouse, and chicken. Long-range sequence comparisons demonstrated multiple peaks of human/mouse homology, a subset of which corresponded precisely with known SCL enhancers. Comparisons between mammalian and chicken sequences identified some, but not all, SCL enhancers. Moreover, one peak of human/mouse homology (+23 region), which did not correspond to a known enhancer, showed significant homology to an analogous region of the chicken SCL locus. A transgenic Xenopus reporter assay was established and demonstrated that the +23 region contained a new neural enhancer. This combination of long-range comparative sequence analysis with a high-throughput transgenic bioassay provides a powerful strategy for identifying and characterizing developmentally important enhancers.
Published: 2000
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39. Characterization of SCML1, a new gene in Xp22, with homology to developmental polycomb genes.

Author: van de Vosse E, Walpole SM, Nicolaou A, van der Bent P, Cahn A, Vaudin M, Ross MT, Durham J, Pavitt R, Wilkinson J, Grafham D, Bergen AA, van Ommen GJ, Yates JR, den Dunnen JT, and Trump D
Subjects: Amino Acid Sequence, Animals, Base Sequence, DNA, Complementary, Eye Diseases, Hereditary genetics, Humans, Molecular Sequence Data, Polycomb-Group Proteins, Retinal Degeneration genetics, Repressor Proteins genetics, X Chromosome
Abstract: Using exon trapping, we have identified a new human gene in Xp22 encoding a 3-kb mRNA. Expression of this RNA is detectable in a range of tissues but is most pronounced in skeletal muscle and heart. The gene, designated "sex comb on midleg-like-1" (SCML1), maps 14 kb centromeric of marker DXS418, between DXS418 and DXS7994, and is transcribed from telomere to centromere. SCML1 spans 18 kb of genomic DNA, consists of six exons, and has a 624-bp open reading frame. The predicted 27-kDa SCML1 protein contains two domains that each have a high homology to two Drosophila transcriptional repressors of the polycomb group (PcG) genes and their homologues in mouse and human. PcG genes are known to be involved in the regulation of homeotic genes, and the mammalian homologues of the PcG genes repress the expression of Hox genes. SCML1 appears to be a new human member of this gene group and may play an important role in the control of embryonal development.
Published: 1998
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