Search

Your search keyword '"Thierry Mieg, J."' showing total 146 results
Start Over Author "Thierry Mieg, J."
146 results on '"Thierry Mieg, J."'

1. On superdimensions of some infinite-dimensional irreducible representations of $osp(m|n)$

Author

Stoilova, N. I., Thierry-Mieg, J., and Van der Jeugt, J.

Subjects
Mathematical Physics, High Energy Physics - Theory, Quantum Physics
Abstract

In a recent paper characters and superdimension formulas were investigated for the class of representations with Dynkin labels $[0,\ldots,0,p]$ of the Lie superalgebra $osp(m|n)$. Such representations are infinite-dimensional, and of relevance in supergravity theories provided their superdimension is finite. We have shown that the superdimension of such representations coincides with the dimension of a $so(m-n)$ representation. In the present contribution, we investigate how this $osp(m|n)\sim so(m-n)$ correspondence can be extended to the class of $osp(2m|2n)$ representations with Dynkin labels $[0,\ldots,0,q,p]$.

Published
2019

2. On characters and superdimensions of some infinite-dimensional irreducible representations of $\mathfrak{osp}(m|n)$

Author

Stoilova, N. I., Thierry-Mieg, J., and Van der Jeugt, J.

Subjects
Mathematical Physics, High Energy Physics - Theory, Quantum Physics
Abstract

Chiral spinors and self dual tensors of the Lie superalgebra $\mathfrak{osp}(m|n)$ are infinite dimensional representations belonging to the class of representations with Dynkin labels $[0,\ldots,0,p]$. We have shown that the superdimension of $[0,\ldots,0,p]$ coincides with the dimension of a $\mathfrak{so}(m-n)$ representation. When the superdimension is finite, these representations could play a role in supergravity models. Our technique is based on expansions of characters in terms of supersymmetric Schur functions. In the process of studying these representations, we obtain new character expansions., Comment: arXiv admin note: text overlap with arXiv:1609.06350, arXiv:1904.00067

Published
2019
Full Text
View/download PDF

3. Extension of the osp(m|n)~ so(m-n) Correspondence to the Infinite-Dimensional Chiral Spinors and Self Dual Tensors

Author

Stoilova, N. I., Thierry-Mieg, J., and Van der Jeugt, J.

Subjects
Mathematical Physics, High Energy Physics - Theory, Mathematics - Representation Theory
Abstract

The spinor representations of the orthosymplectic Lie superalgebras osp(m|n) are considered and constructed. These are infinite-dimensional irreducible representations, of which the superdimension coincides with the dimension of the spinor representation of so(m-n). Next, we consider the self dual tensor representations of osp(m|n) and their generalizations: these are also infinite-dimensional and correspond to the highest irreducible component of the $p^{th}$ power of the spinor representation. We determine the character of these representations, and deduce a superdimension formula. From this, it follows that also for these representations the osp(m|n)~ so(m-n) correspondence holds.

Published
2016
Full Text
View/download PDF

5. Atypical modules of the lie superalgebra gl (m/n)

Author

Van der Jeugt, J., Hughes, J. W. B., King, R. C., Thierry-Mieg, J., Araki, H., editor, Ehlers, J., editor, Hepp, K., editor, Jaffe, R. L., editor, Kippenhan, R., editor, Ruelle, D., editor, Weidenmüller, H. A., editor, Wess, J., editor, Zittartz, J., editor, Beiglböck, W., editor, Dodonov, Victor V., editor, and Man'ko, Vladimir I., editor

Published
1991
Full Text
View/download PDF

9. The C. elegans genome sequencing project: a beginning

Author

Sulston, J., Du, Z., Thomas, K., Wilson, R., Hillier, L., Staden, R., Halloran, N., Green, P., Thierry-Mieg, J., Qiu, L., Dear, S., Coulson, A., Craxton, M., Durbin, R., Berks, M., Metzstein, M., Hawkins, T., Ainscough, R., and Waterston, R.

Subjects
Caenorhabditis elegans -- Genetic aspects, Genomes -- Research, Genetic research -- Methods, DNA sequencers -- Usage, Environmental issues, Science and technology, Zoology and wildlife conservation
Published
1992

11. The H-Invitational Database (H-InvDB), a comprehensive annotation resource for human genes and transcripts

Author

Yamasaki, C., Murakami, K., Fujii, Y., Sato, Y., Harada, E., Takeda, J., Taniya, T., Sakate, R., Kikugawa, S., Shimada, M., Tanino, M., Koyanagi, K.O., Barrero, R.A., Gough, C., Chun, H., Habara, T., Hanaoka, H., Hayakawa, Y., Hilton, P.B., Kaneko, Y., Kanno, M., Kawahara, Y., Kawamura, T., Matsuya, A., Nagata, N., Nishikata, K., Noda, A.O., Nurimoto, S., Saichi, N., Sakai, H., Sanbonmatsu, R., Shiba, R., Suzuki, M., Takabayashi, K., Takahashi, A., Tamura, T., Tanaka, M., Tanaka, S., Todokoro, F., Yamaguchi, K., Yamamoto, N., Okido, T., Mashima, J., Hashizume, A., Jin, L., Lee, K., Lin, Y., Nozaki, A., Sakai, K., Tada, M., Miyazaki, S., Makino, T., Ohyanagi, H., Osato, N., Tanaka, N., Suzuki, Y., Ikeo, K., Saitou, N., Sugawara, H., O'Donovan, C., Kulikova, T., Whitfield, E., Halligan, B., Shimoyama, M., Twigger, S., Yura, K., Kimura, K., Yasuda, T., Nishikawa, T., Akiyama, Y., Motono, C., Mukai, Y., Nagasaki, H., Suwa, M., Horton, P., Kikuno, R., Ohara, O., Lancet, D., Eveno, E., Graudens, E., Imbeaud, S., Debily, M., Hayashizaki, Y., Amid, C., Han, M., Osanger, A., Endo, T., Thomas, M.A., Hirakawa, M., Makalowski, W., Nakao, M., Kim, N., Yoo, H., de Souza, S.J., Bonaldo, M.D.F., Niimura, Y., Kuryshev, V., Schupp, I., Wiemann, S., Bellgard, M., Shionyu, M., Jia, L., Thierry-Mieg, D., Thierry-Mieg, J., Wagner, L., Zhang, Q., Go, M., Minoshima, S., Ohtsubo, M., Hanada, K., Tonellato, P., Isogai, T., Zhang, J., Lenhard, B., Kim, S., Chen, Z., Hinz, U., Estreicher, A., Nakai, K., Makalowska, I., Hide, W., Tiffin, N., Wilming, L., Chakraborty, R., Soares, M.B., Chiusano, M.L., Auffray, C., Yamaguchi-Kabata, Y., Itoh, T., Hishiki, T., Fukuchi, S., Nishikawa, K., Sugano, S., Nomura, N., Tateno, Y., Imanishi, T., Gojobori, T., Genexpress, Centre National de la Recherche Scientifique (CNRS), Yamasaki, C., Murakami, K., Fujii, Y., Sato, Y., Harada, E., Takeda, J., Taniya, T., Sakate, R., Kikugawa, S., Shimada, M., Tanino, M., Koyanagi, K. O., Barrero, R. A., Gough, C., Chun, H. W., Habara, T., Hanaoka, H., Hayakawa, Y., Hilton, P. B., Kaneko, Y., Kanno, M., Kawahara, Y., Kawamura, T., Matsuya, A., Nagata, N., Nishikata, K., Noda, A. O., Nurimoto, S., Saichi, N., Sakai, H., Sanbonmatsu, R., Shiba, R., Suzuki, M., Takabayashi, K., Takahashi, A., Tamura, T., Tanaka, M., Tanaka, S., Todokoro, F., Yamaguchi, K., Yamamoto, N., Okido, T., Mashima, J., Hashizume, A., Jin, L., Lee, K. B., Lin, Y. C., Nozaki, A., Sakai, K., Tada, M., Miyazaki, S., Makino, T., Ohyanagi, H., Osato, N., Tanaka, N., Suzuki, Y., Ikeo, K., Saitou, N., Sugawara, H., Odonovan, C., Kulikova, T., Whitfield, E., Halligan, B., Shimoyama, M., Twigger, S., Yura, K., Kimura, K., Yasuda, T., Nishikawa, T., Akiyama, Y., Motono, C., Mukai, Y., Nagasaki, H., Suwa, M., Horton, P., Kikuno, R., Ohara, O., Lancet, D., Eveno, E., Graudens, E., Imbeaud, S., Debily, M. A., Hayashizaki, Y., Amid, C., Han, M., Osanger, A., Endo, T., Thomas, M. A., Hirakawa, M., Makalowski, W., Nakao, M., Kim, N. S., Yoo, H. S., De Souza, S. J., Bonaldo Mde, F., Niimura, Y., Kuryshev, V., Schupp, I., Wiemann, S., Bellgard, M., Shionyu, M., Jia, L., Thierry Mieg, D., Thierry Mieg, J., Wagner, L., Zhang, Q., Go, M., Minoshima, S., Ohtsubo, M., Hanada, K., Tonellato, P., Isogai, T., Zhang, J., Lenhard, B., Kim, S., Chen, Z., Hinz, U., Estreicher, A., Nakai, K., Makalowska, I., Hide, W., Tiffin, N., Wilming, L., Chakraborty, R., Soares, M. B., Chiusano, MARIA LUISA, Auffray, C., Yamaguchi Kabata, Y., Itoh, T., Hishiki, T., Fukuchi, S., Nishikawa, K., Sugano, S., Nomura, N., Tateno, Y., Imanishi, T., and Gojobori, T.

Subjects
DNA, Complementary, [SDV]Life Sciences [q-bio], Pseudogene, Locus (genetics), Biology, computer.software_genre, User-Computer Interface, 03 medical and health sciences, Annotation, 0302 clinical medicine, Databases, Genetic, Genetics, Animals, Humans, Gene family, RNA, Messenger, Gene, database, 030304 developmental biology, Internet, 0303 health sciences, Human genome, Database, Alternative splicing, Chromosome Mapping, Proteins, Articles, Gene expression profiling, Genes, transcriptome, computer, 030217 neurology & neurosurgery
Abstract

International audience; Here we report the new features and improvements in our latest release of the H-Invitational Database (H-InvDB; http://www.h-invitational.jp/), a comprehensive annotation resource for human genes and transcripts. H-InvDB, originally developed as an integrated database of the human transcriptome based on extensive annotation of large sets of full-length cDNA (FLcDNA) clones, now provides annotation for 120 558 human mRNAs extracted from the International Nucleotide Sequence Databases (INSD), in addition to 54 978 human FLcDNAs, in the latest release H-InvDB_4.6. We mapped those human transcripts onto the human genome sequences (NCBI build 36.1) and determined 34 699 human gene clusters, which could define 34 057 (98.1%) protein-coding and 642 (1.9%) non-protein-coding loci; 858 (2.5%) transcribed loci overlapped with predicted pseudogenes. For all these transcripts and genes, we provide comprehensive annotation including gene structures, gene functions, alternative splicing variants, functional non-protein-coding RNAs, functional domains, predicted sub cellular localizations, metabolic pathways, predictions of protein 3D structure, mapping of SNPs and microsatellite repeat motifs, co-localization with orphan diseases, gene expression profiles, orthologous genes, protein-protein interactions (PPI) and annotation for gene families. The current H-InvDB annotation resources consist of two main views: Transcript view and Locus view and eight sub-databases: the DiseaseInfo Viewer, H-ANGEL, the Clustering Viewer, G-integra, the TOPO Viewer, Evola, the PPI view and the Gene family/group.

Published
2007
Full Text
View/download PDF

14. 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
Full Text
View/download PDF

16. Extension of the osp(m|n)~ so(m-n) Correspondence to the Infinite-Dimensional Chiral Spinors and Self Dual Tensors

Author

Stoilova, NI, Thierry-Mieg, J, and Van der Jeugt, Joris

Subjects
High Energy Physics - Theory, IRREDUCIBLE REPRESENTATIONS, YOUNG-DIAGRAMS, representations, FOS: Physical sciences, Mathematical Physics (math-ph), LIE-SUPERALGEBRAS, orthosymplectic Lie superalgebras, spinor and self dual tensor, superdimensions, IDENTITIES, Physics and Astronomy, High Energy Physics - Theory (hep-th), AFFINE, Mathematics::Quantum Algebra, FORMULAS, FOS: Mathematics, SUPERGRAVITY, Representation Theory (math.RT), Mathematics::Representation Theory, ALGEBRAS, Mathematical Physics, Mathematics - Representation Theory
Abstract

The spinor representations of the orthosymplectic Lie superalgebras osp(m|n) are considered and constructed. These are infinite-dimensional irreducible representations, of which the superdimension coincides with the dimension of the spinor representation of so(m - n). Next, we consider the self dual tensor representations of osp(m|n) and their generalizations: these are also infinitedimensional and correspond to the highest irreducible component of the pth power of the spinor representation. We determine the character of these representations, and deduce a superdimension formula. From this, it follows that also for these representations the osp(m|n) similar to so(m - n) correspondence holds.

Published
2016
Full Text
View/download PDF

19. Integrative Annotation of 21,037 Human Genes\ud Validated by Full-Length cDNA Clones

Author

Imanishi, T., Itoh, T., Suzuki, Y., O'Donovan, C., Fukuchi, S., Koyanagi, K.O., Barrero, R.A., Tamura, T., Yamaguchi-Kabata, Y., Tanino, M., Yura, K., Miyazaki, S., Ikeo, K., Homma, K., Kasprzyk, A., Nishikawa, T., Hirakawa, M., Thierry-Mieg, J., Thierry-Mieg, D., Ashurst, J., Jia, L., Nakao, M., Thomas, M.A., Mulder, N., Karavidopoulou, Y., Jin, L., Kim, S., Yasuda, T., Lenhard, B., Eveno, E., Yamasaki, C., Takeda, J., Gough, C., Hilton, P., Fujii, Y., Sakai, H., Tanaka, S., Amid, C., Bellgard, M., De Fatima Bonaldo, M., Bono, H., Bromberg, S.K., Brookes, A.J., Bruford, E., Carninci, P., Chelala, C., Couillault, C., de Souza, S.J., Debily, M., Devignes, M., Dubchak, I., Endo, T., Estreicher, A., Eyras, E., Fukami-Kobayashi, K., Gopinath, G.R., Graudens, E., Hahn, Y., Han, M., Han, Z., Hanada, K., Hanaoka, H., Harada, E., Hinz, U., Hishiki, T., Hopkinson, I., Imbeaud, S., Inoko, H., Kanapin, A., Kaneko, Y., Kasukawa, T., Kersey, P., Kikuno, R., Kimura, K., Korn, B., Kuryshev, V., Makalowska, I., Makino, T., Mano, S., Mariage-Samson, R., Mashima, J., Matsuda, H., Mewes, H., Minoshima, S., Nagai, K., Nagasaki, H., Nagata, N., Nigam, R., Ogasawara, O., Ohara, O., Ohtsubo, M., Okido, T., Oota, S., Ota, M., Ota, T., Otsuki, T., Piatier-Tonneau, D., Poustka, A., Ren, S., Saitou, N., Sakai, K., Sakamoto, S., Sakate, R., Schupp, I., Servant, F., Sherry, S., Shiba, R., Shimizu, N., Shimoyama, M., Simpson, A.J., Soares, B., Steward, C., Suwa, M., Suzuki, M., Takahashi, A., Tamiya, G., Tanaka, H., Taylor, T., Terwilliger, J.D., Unneberg, P., Veeramachaneni, V., Watanabe, S., Wilming, L., Yasuda, N., Yoo, H-S., Stodolsky, M., Makalowski, W., Go, M., Nakai, K., Takagi, T., Kanehisa, M., Sakaki, Y., Quackenbush, J., Okazaki, Y., Hayashizaki, Y., Hide, W., Chakraborty, R., Nishikawa, K., Sugawara, H., Tateno, Y., Chen, Z., Oishi, M., Tonellato, P., Apweiler, R., Okubo, K., Wagner, L., Wiemann, S., Strausberg, R.L., Isogai, T., Auffray, C., Nomura, N., Gojobori, T., and Sugano, S.

Abstract

The human genome sequence defines our inherent biological potential; the realization of the biology encoded therein\ud requires knowledge of the function of each gene. Currently, our knowledge in this area is still limited. Several lines of\ud investigation have been used to elucidate the structure and function of the genes in the human genome. Even so, gene\ud prediction remains a difficult task, as the varieties of transcripts of a gene may vary to a great extent. We thus\ud performed an exhaustive integrative characterization of 41,118 full-length cDNAs that capture the gene transcripts as\ud complete functional cassettes, providing an unequivocal report of structural and functional diversity at the gene level.\ud Our international collaboration has validated 21,037 human gene candidates by analysis of high-quality full-length\ud cDNA clones through curation using unified criteria. This led to the identification of 5,155 new gene candidates. It also\ud manifested the most reliable way to control the quality of the cDNA clones. We have developed a human gene\ud database, called the H-Invitational Database (H-InvDB; http://www.h-invitational.jp/). It provides the following:\ud integrative annotation of human genes, description of gene structures, details of novel alternative splicing isoforms,\ud non-protein-coding RNAs, functional domains, subcellular localizations, metabolic pathways, predictions of protein\ud three-dimensional structure, mapping of known single nucleotide polymorphisms (SNPs), identification of polymorphic\ud microsatellite repeats within human genes, and comparative results with mouse full-length cDNAs. The H-InvDB\ud analysis has shown that up to 4% of the human genome sequence (National Center for Biotechnology Information\ud build 34 assembly) may contain misassembled or missing regions. We found that 6.5% of the human gene candidates\ud (1,377 loci) did not have a good protein-coding open reading frame, of which 296 loci are strong candidates for nonprotein-coding\ud RNA genes. In addition, among 72,027 uniquely mapped SNPs and insertions/deletions localized within\ud human genes, 13,215 nonsynonymous SNPs, 315 nonsense SNPs, and 452 indels occurred in coding regions. Together\ud with 25 polymorphic microsatellite repeats present in coding regions, they may alter protein structure, causing\ud phenotypic effects or resulting in disease. The H-InvDB platform represents a substantial contribution to resources\ud needed for the exploration of human biology and pathology

Published
2004

20. Detecting and correcting systematic variation in large-scale RNA sequencing data.

Author

Li, S, Łabaj, PP, Zumbo, P, Sykacek, P, Shi, W, Shi, L, Phan, J, Wu, P-Y, Wang, M, Wang, C, Thierry-Mieg, D, Thierry-Mieg, J, Kreil, DP, Mason, CE, Li, S, Łabaj, PP, Zumbo, P, Sykacek, P, Shi, W, Shi, L, Phan, J, Wu, P-Y, Wang, M, Wang, C, Thierry-Mieg, D, Thierry-Mieg, J, Kreil, DP, and Mason, CE

Abstract

High-throughput RNA sequencing (RNA-seq) enables comprehensive scans of entire transcriptomes, but best practices for analyzing RNA-seq data have not been fully defined, particularly for data collected with multiple sequencing platforms or at multiple sites. Here we used standardized RNA samples with built-in controls to examine sources of error in large-scale RNA-seq studies and their impact on the detection of differentially expressed genes (DEGs). Analysis of variations in guanine-cytosine content, gene coverage, sequencing error rate and insert size allowed identification of decreased reproducibility across sites. Moreover, commonly used methods for normalization (cqn, EDASeq, RUV2, sva, PEER) varied in their ability to remove these systematic biases, depending on sample complexity and initial data quality. Normalization methods that combine data from genes across sites are strongly recommended to identify and remove site-specific effects and can substantially improve RNA-seq studies.

Published
2014

21. A comprehensive assessment of RNA-seq accuracy, reproducibility and information content by the Sequencing Quality Control Consortium

Author

Su, Z, Labaj, PP, Li, S, Thierry-Mieg, J, Thierry-Mieg, D, Shi, W, Wang, C, Schroth, GP, Setterquist, RA, Thompson, JF, Jones, WD, Xiao, W, Xu, W, Jensen, RV, Kelly, R, Xu, J, Conesa, A, Furlanello, C, Gao, H, Hong, H, Jafari, N, Letovsky, S, Liao, Y, Lu, F, Oakeley, EJ, Peng, Z, Praul, CA, Santoyo-Lopez, J, Scherer, A, Shi, T, Smyth, GK, Staedtler, F, Sykacek, P, Tan, X-X, Thompson, EA, Vandesompele, J, Wang, MD, Wang, J, Wolfinger, RD, Zavadil, J, Auerbach, SS, Bao, W, Binder, H, Blomquist, T, Brilliant, MH, Bushel, PR, Cain, W, Catalano, JG, Chang, C-W, Chen, T, Chen, G, Chen, R, Chierici, M, Chu, T-M, Clevert, D-A, Deng, Y, Derti, A, Devanarayan, V, Dong, Z, Dopazo, J, Du, T, Fang, H, Fang, Y, Fasold, M, Fernandez, A, Fischer, M, Furio-Tari, P, Fuscoe, JC, Caiment, F, Gaj, S, Gandara, J, Ge, W, Gondo, Y, Gong, B, Gong, M, Gong, Z, Green, B, Guo, C, Guo, L, Guo, L-W, Hadfield, J, Hellemans, J, Hochreiter, S, Jia, M, Jian, M, Johnson, CD, Kay, S, Kleinjans, J, Lababidi, S, Levy, S, Li, Q-Z, Li, L, Li, P, Li, Y, Li, H, Li, J, Lin, SM, Lopez, FJ, Lu, X, Luo, H, Ma, X, Meehan, J, Megherbi, DB, Mei, N, Mu, B, Ning, B, Pandey, A, Perez-Florido, J, Perkins, RG, Peters, R, Phan, JH, Pirooznia, M, Qian, F, Qing, T, Rainbow, L, Rocca-Serra, P, Sambourg, L, Sansone, S-A, Schwartz, S, Shah, R, Shen, J, Smith, TM, Stegle, O, Stralis-Pavese, N, Stupka, E, Suzuki, Y, Szkotnicki, LT, Tinning, M, Tu, B, van Deft, J, Vela-Boza, A, Venturini, E, Walker, SJ, Wan, L, Wang, W, Wieben, ED, Willey, JC, Wu, P-Y, Xuan, J, Yang, Y, Ye, Z, Yin, Y, Yu, Y, Yuan, Y-C, Zhang, J, Zhang, KK, Zhang, W, Zhang, Y, Zhao, C, Zheng, Y, Zhou, Y, Zumbo, P, Tong, W, Kreil, DP, Mason, CE, Shi, L, Su, Z, Labaj, PP, Li, S, Thierry-Mieg, J, Thierry-Mieg, D, Shi, W, Wang, C, Schroth, GP, Setterquist, RA, Thompson, JF, Jones, WD, Xiao, W, Xu, W, Jensen, RV, Kelly, R, Xu, J, Conesa, A, Furlanello, C, Gao, H, Hong, H, Jafari, N, Letovsky, S, Liao, Y, Lu, F, Oakeley, EJ, Peng, Z, Praul, CA, Santoyo-Lopez, J, Scherer, A, Shi, T, Smyth, GK, Staedtler, F, Sykacek, P, Tan, X-X, Thompson, EA, Vandesompele, J, Wang, MD, Wang, J, Wolfinger, RD, Zavadil, J, Auerbach, SS, Bao, W, Binder, H, Blomquist, T, Brilliant, MH, Bushel, PR, Cain, W, Catalano, JG, Chang, C-W, Chen, T, Chen, G, Chen, R, Chierici, M, Chu, T-M, Clevert, D-A, Deng, Y, Derti, A, Devanarayan, V, Dong, Z, Dopazo, J, Du, T, Fang, H, Fang, Y, Fasold, M, Fernandez, A, Fischer, M, Furio-Tari, P, Fuscoe, JC, Caiment, F, Gaj, S, Gandara, J, Ge, W, Gondo, Y, Gong, B, Gong, M, Gong, Z, Green, B, Guo, C, Guo, L, Guo, L-W, Hadfield, J, Hellemans, J, Hochreiter, S, Jia, M, Jian, M, Johnson, CD, Kay, S, Kleinjans, J, Lababidi, S, Levy, S, Li, Q-Z, Li, L, Li, P, Li, Y, Li, H, Li, J, Lin, SM, Lopez, FJ, Lu, X, Luo, H, Ma, X, Meehan, J, Megherbi, DB, Mei, N, Mu, B, Ning, B, Pandey, A, Perez-Florido, J, Perkins, RG, Peters, R, Phan, JH, Pirooznia, M, Qian, F, Qing, T, Rainbow, L, Rocca-Serra, P, Sambourg, L, Sansone, S-A, Schwartz, S, Shah, R, Shen, J, Smith, TM, Stegle, O, Stralis-Pavese, N, Stupka, E, Suzuki, Y, Szkotnicki, LT, Tinning, M, Tu, B, van Deft, J, Vela-Boza, A, Venturini, E, Walker, SJ, Wan, L, Wang, W, Wieben, ED, Willey, JC, Wu, P-Y, Xuan, J, Yang, Y, Ye, Z, Yin, Y, Yu, Y, Yuan, Y-C, Zhang, J, Zhang, KK, Zhang, W, Zhang, Y, Zhao, C, Zheng, Y, Zhou, Y, Zumbo, P, Tong, W, Kreil, DP, Mason, CE, and Shi, L

Abstract

We present primary results from the Sequencing Quality Control (SEQC) project, coordinated by the US Food and Drug Administration. Examining Illumina HiSeq, Life Technologies SOLiD and Roche 454 platforms at multiple laboratory sites using reference RNA samples with built-in controls, we assess RNA sequencing (RNA-seq) performance for junction discovery and differential expression profiling and compare it to microarray and quantitative PCR (qPCR) data using complementary metrics. At all sequencing depths, we discover unannotated exon-exon junctions, with >80% validated by qPCR. We find that measurements of relative expression are accurate and reproducible across sites and platforms if specific filters are used. In contrast, RNA-seq and microarrays do not provide accurate absolute measurements, and gene-specific biases are observed for all examined platforms, including qPCR. Measurement performance depends on the platform and data analysis pipeline, and variation is large for transcript-level profiling. The complete SEQC data sets, comprising >100 billion reads (10Tb), provide unique resources for evaluating RNA-seq analyses for clinical and regulatory settings.

Published
2014

22. 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

23. The H-Invitational Database (H-InvDB), a comprehensive annotation resource for human genes and transcripts.

Author

Yamasaki, C., Murakami, K., Fujii, Y., Sato, Y., Harada, E., Takeda, J-I, Taniya, T., Sakate, R., Kikugawa, S., Shimada, M., Tanino, M., Koyanagi, K.O., Barrero, R.A., Gough, C., Chun, H-W, Habara, T., Hanaoka, H., Hayakawa, Y., Hilton, P.B., Kaneko, Y., Kanno, M., Kawahara, Y., Kawamura, T., Matsuya, A., Nagata, N., Nishikata, K., Noda, A.O., Nurimoto, S., Saichi, N., Sakai, H., Sanbonmatsu, R., Shiba, R., Suzuki, M., Takabayashi, K., Takahashi, A., Tamura, T., Tanaka, M., Tanaka, S., Todokoro, F., Yamaguchi, K., Yamamoto, N., Okido, T., Mashima, J., Hashizume, A., Jin, L., Lee, K-B, Lin, Y-C, Nozaki, A., Sakai, K., Tada, M., Miyazaki, S., Makino, T., Ohyanagi, H., Osato, N., Tanaka, N., Suzuki, Y., Ikeo, K., Saitou, N., Sugawara, H., O'Donovan, C., Kulikova, T., Whitfield, E., Halligan, B., Shimoyama, M., Twigger, S., Yura, K., Kimura, K., Yasuda, T., Nishikawa, T., Akiyama, Y., Motono, C., Mukai, Y., Nagasaki, H., Suwa, M., Horton, P., Kikuno, R., Ohara, O., Lancet, D., Eveno, E., Graudens, E., Imbeaud, S., Debily, M.A., Hayashizaki, Y., Amid, C., Han, M., Osanger, A., Endo, T., Thomas, M.A., Hirakawa, M., Makalowski, W., Nakao, M., Kim, N-S, Yoo, H-S, De Souza, S.J., Bonaldo, M., Niimura, Y., Kuryshev, V., Schupp, I., Wiemann, S., Bellgard, M., Shionyu, M., Jia, L., Thierry-Mieg, D., Thierry-Mieg, J., Wagner, L., Zhang, Q., Go, M., Minoshima, S., Ohtsubo, M., Hanada, K., Tonellato, P., Isogai, T., Zhang, J., Lenhard, B., Kim, S., Chen, Z., Hinz, U., Estreicher, A., Nakai, K., Makalowska, I., Hide, W., Tiffin, N., Wilming, L., Chakraborty, R., Soares, M.B., Chiusano, M.L., Auffray, C., Yamaguchi-Kabata, Y., Itoh, T., Hishiki, T., Fukuchi, S., Nishikawa, K., Sugano, S., Nomura, N., Tateno, Y., Imanishi, T., Gojobori, T., Yamasaki, C., Murakami, K., Fujii, Y., Sato, Y., Harada, E., Takeda, J-I, Taniya, T., Sakate, R., Kikugawa, S., Shimada, M., Tanino, M., Koyanagi, K.O., Barrero, R.A., Gough, C., Chun, H-W, Habara, T., Hanaoka, H., Hayakawa, Y., Hilton, P.B., Kaneko, Y., Kanno, M., Kawahara, Y., Kawamura, T., Matsuya, A., Nagata, N., Nishikata, K., Noda, A.O., Nurimoto, S., Saichi, N., Sakai, H., Sanbonmatsu, R., Shiba, R., Suzuki, M., Takabayashi, K., Takahashi, A., Tamura, T., Tanaka, M., Tanaka, S., Todokoro, F., Yamaguchi, K., Yamamoto, N., Okido, T., Mashima, J., Hashizume, A., Jin, L., Lee, K-B, Lin, Y-C, Nozaki, A., Sakai, K., Tada, M., Miyazaki, S., Makino, T., Ohyanagi, H., Osato, N., Tanaka, N., Suzuki, Y., Ikeo, K., Saitou, N., Sugawara, H., O'Donovan, C., Kulikova, T., Whitfield, E., Halligan, B., Shimoyama, M., Twigger, S., Yura, K., Kimura, K., Yasuda, T., Nishikawa, T., Akiyama, Y., Motono, C., Mukai, Y., Nagasaki, H., Suwa, M., Horton, P., Kikuno, R., Ohara, O., Lancet, D., Eveno, E., Graudens, E., Imbeaud, S., Debily, M.A., Hayashizaki, Y., Amid, C., Han, M., Osanger, A., Endo, T., Thomas, M.A., Hirakawa, M., Makalowski, W., Nakao, M., Kim, N-S, Yoo, H-S, De Souza, S.J., Bonaldo, M., Niimura, Y., Kuryshev, V., Schupp, I., Wiemann, S., Bellgard, M., Shionyu, M., Jia, L., Thierry-Mieg, D., Thierry-Mieg, J., Wagner, L., Zhang, Q., Go, M., Minoshima, S., Ohtsubo, M., Hanada, K., Tonellato, P., Isogai, T., Zhang, J., Lenhard, B., Kim, S., Chen, Z., Hinz, U., Estreicher, A., Nakai, K., Makalowska, I., Hide, W., Tiffin, N., Wilming, L., Chakraborty, R., Soares, M.B., Chiusano, M.L., Auffray, C., Yamaguchi-Kabata, Y., Itoh, T., Hishiki, T., Fukuchi, S., Nishikawa, K., Sugano, S., Nomura, N., Tateno, Y., Imanishi, T., and Gojobori, T.

Abstract

Here we report the new features and improvements in our latest release of the H-Invitational Database (H-InvDB; http://www.h-invitational.jp/), a comprehensive annotation resource for human genes and transcripts. H-InvDB, originally developed as an integrated database of the human transcriptome based on extensive annotation of large sets of full-length cDNA (FLcDNA) clones, now provides annotation for 120 558 human mRNAs extracted from the International Nucleotide Sequence Databases (INSD), in addition to 54 978 human FLcDNAs, in the latest release H-InvDB_4.6. We mapped those human transcripts onto the human genome sequences (NCBI build 36.1) and determined 34 699 human gene clusters, which could define 34 057 (98.1%) protein-coding and 642 (1.9%) non-protein-coding loci; 858 (2.5%) transcribed loci overlapped with predicted pseudogenes. For all these transcripts and genes, we provide comprehensive annotation including gene structures, gene functions, alternative splicing variants, functional non-protein-coding RNAs, functional domains, predicted sub cellular localizations, metabolic pathways, predictions of protein 3D structure, mapping of SNPs and microsatellite repeat motifs, co-localization with orphan diseases, gene expression profiles, orthologous genes, protein-protein interactions (PPI) and annotation for gene families. The current H-InvDB annotation resources consist of two main views: Transcript view and Locus view and eight sub-databases: the DiseaseInfo Viewer, H-ANGEL, the Clustering Viewer, G-integra, the TOPO Viewer, Evola, the PPI view and the Gene family/group.

Published
2008

24. Large-scale identification and characterization of alternative splicing variants of human gene transcripts using 56 419 completely sequenced and manually annotated full-length cDNAs

Author

Takeda, J-I, Suzuki, Y., Nakao, M., Barrero, R.A., Koyanagi, K.O., Jin, L., Motono, C., Hata, H., Isogai, T., Nagai, K., Otsuki, T., Kuryshev, V., Shionyu, M., Yura, K., Go, M., Thierry-Mieg, J., Thierry-Mieg, D., Wiemann, S., Nomura, N., Sugano, S., Gojobori, T., Imanishi, T., Takeda, J-I, Suzuki, Y., Nakao, M., Barrero, R.A., Koyanagi, K.O., Jin, L., Motono, C., Hata, H., Isogai, T., Nagai, K., Otsuki, T., Kuryshev, V., Shionyu, M., Yura, K., Go, M., Thierry-Mieg, J., Thierry-Mieg, D., Wiemann, S., Nomura, N., Sugano, S., Gojobori, T., and Imanishi, T.

Abstract

We report the first genome-wide identification and characterization of alternative splicing in human gene transcripts based on analysis of the full-length cDNAs. Applying both manual and computational analyses for 56 419 completely sequenced and precisely annotated full-length cDNAs selected for the H-Invitational human transcriptome annotation meetings, we identified 6877 alternative splicing genes with 18 297 different alternative splicing variants. A total of 37 670 exons were involved in these alternative splicing events. The encoded protein sequences were affected in 6005 of the 6877 genes. Notably, alternative splicing affected protein motifs in 3015 genes, subcellular localizations in 2982 genes and transmembrane domains in 1348 genes. We also identified interesting patterns of alternative splicing, in which two distinct genes seemed to be bridged, nested or having overlapping protein coding sequences (CDSs) of different reading frames (multiple CDS). In these cases, completely unrelated proteins are encoded by a single locus. Genome-wide annotations of alternative splicing, relying on full-length cDNAs, should lay firm groundwork for exploring in detail the diversification of protein function, which is mediated by the fast expanding universe of alternative splicing variants.

Published
2006

25. The gene number dilemma: Direct evidence for at least 19,000 protein-encoding genes in C. elegans and implications for the human genome

Author

Reboul, J., primary, Vaglio, P., additional, Tzellas, N., additional, Jackson, C., additional, Moore, T., additional, Kohara, Y., additional, Thierry-Mieg, J., additional, Thierry-Mieg, D., additional, Hitti, J., additional, Doucette-Stamm, L., additional, Hartley, J., additional, Temple, G., additional, Brasch, M., additional, Hill, D.E., additional, and Vidal, M., additional

Published
2001
Full Text
View/download PDF

26. The gene number dilemma: direct evidence for at least 19,000 protein-encoding genes in Caenorhabditis elegans and implications for the human genome

Author

Hill, David E., primary, Reboul, J., additional, Vaglio, P., additional, Tzellas, N., additional, Jackson, C., additional, Moore, T., additional, Kohara, Y., additional, Thierry-Mieg, J., additional, Thierry-Mieg, D., additional, Hitti, J., additional, Doucette-Stamm, L., additional, Hartley, J., additional, Temple, G., additional, Brasch, M., additional, Hill, D.E., additional, and Vidal, M., additional

Published
2001
Full Text
View/download PDF

29. 2.2 Mb of contiguous nucleotide sequence from chromosome III of C. elegans

Author

Wilson, R., primary, Ainscough, R., additional, Anderson, K., additional, Baynes, C., additional, Berks, M., additional, Bonfield, J., additional, Burton, J., additional, Connell, M., additional, Copsey, T., additional, Cooper, J., additional, Coulson, A., additional, Craxton, M., additional, Dear, S., additional, Du, Z., additional, Durbin, R., additional, Favello, A., additional, Fraser, A., additional, Fulton, L., additional, Gardner, A., additional, Green, P., additional, Hawkins, T., additional, Hillier, L., additional, Jier, M., additional, Johnston, L., additional, Jones, M., additional, Kershaw, J., additional, Kirsten, J., additional, Laisster, N., additional, Latreille, P., additional, Lightning, J., additional, Lloyd, C., additional, Mortimore, B., additional, O'Callaghan, M., additional, Parsons, J., additional, Percy, C., additional, Rifken, L., additional, Roopra, A., additional, Saunders, D., additional, Shownkeen, R., additional, Sims, M., additional, Smaldon, N., additional, Smith, A., additional, Smith, M., additional, Sonnhammer, E., additional, Staden, R., additional, Sulston, J., additional, Thierry-Mieg, J., additional, Thomas, K., additional, Vaudin, M., additional, Vaughan, K., additional, Waterston, R., additional, Watson, A., additional, Weinstock, L., additional, Wilkinson-Sproat, J., additional, and Wohldman, P., additional

Published
1994
Full Text
View/download PDF

30. The Genome of the Nematode Caenorhabditis elegans

Author

Waterston, R., primary, Ainscough, R., additional, Anderson, K., additional, Berks, M., additional, Blair, D., additional, Connell, M., additional, Cooper, J., additional, Coulson, A., additional, Craxton, M., additional, Dear, S., additional, Du, Z., additional, Durbin, R., additional, Favello, A., additional, Fulton, L., additional, Green, P., additional, Halloran, N., additional, Hawkins, T., additional, Hillier, L., additional, Huynh, C., additional, Johnston, L., additional, Kershaw, J., additional, Kirsten, J., additional, Kozono, Y., additional, Laister, N., additional, Latreille, P., additional, Mortimore, B., additional, Panussis, D., additional, Percy, C., additional, Rifkin, L., additional, Roopra, A., additional, Shownkeen, R., additional, Smaldon, N., additional, Smith, A., additional, Smith, M., additional, Staden, R., additional, Sulston, J., additional, Thierry-Mieg, J., additional, Vaudin, M., additional, Vaughan, K., additional, Weinstock, L., additional, Wilson, R., additional, and Wohldmann, P., additional

Published
1993
Full Text
View/download PDF

31. A survey of expressed genes in Caenorhabditis elegans

Author

Waterston, R., primary, Martin, C., additional, Craxton, M., additional, Huynh, C., additional, Coulson, A., additional, Hillier, L., additional, Durbin, R., additional, Green, P., additional, Shownkeen, R., additional, Halloran, N., additional, Metzstein, M., additional, Hawkins, T., additional, Wilson, R., additional, Berks, M., additional, Du, Z., additional, Thomas, K., additional, Thierry-Mieg, J., additional, and Sulston, J., additional

Published
1992
Full Text
View/download PDF

35. WormBase: network access to the genome and biology of Caenorhabditis elegans.

Author

Stein, L, Sternberg, P, Durbin, R, Thierry-Mieg, J, and Spieth, J

Abstract

WormBase (http://www.wormbase.org) is a web-based resource for the Caenorhabditis elegans genome and its biology. It builds upon the existing ACeDB database of the C.elegans genome by providing data curation services, a significantly expanded range of subject areas and a user-friendly front end.

Published
2001
Full Text
View/download PDF

36. Scriptable access to the Caenorhabditis elegans genome sequence and other ACEDB databases.

Author

Stein, L D and Thierry-Mieg, J

Abstract

Much of the world's genomic data are available to the community through networked databases that are accessed via Web interfaces. Although this paradigm provides browse-level access and has greatly facilitated linking between databases, it does not provide any convenient mechanism for programmatically fetching and integrating data from diverse databases. We have created a library and an application programming interface (API) named AcePerl that provides simple, direct access to ACEDB databases from the Perl programming language. With this library, programmers and computer-savvy biologists can write software to pose complex queries on local and remote ACEDB databases, retrieve the data, integrate the results, and move data objects from one database to another. In addition, a set of Web scripts running on top of AcePerl provides Web-based browsing of any local or remote ACEDB database. AcePerl and the AceBrowser Web browser run on Unix systems and are available under a license that allows for unrestricted use and redistribution. Both packages can be downloaded from URL. A Microsoft Windows port of AcePerl is in the planning stages.

Published
1998
Full Text
View/download PDF

37. Sequence assembly with CAFTOOLS.

Author

Dear, S, Durbin, R, Hillier, L, Marth, G, Thierry-Mieg, J, and Mott, R

Abstract

Large-scale genomic sequencing requires a software infrastructure to support and integrate applications that are not directly compatible. We describe a suite of software tools built around the Common Assembly Format (CAF), a comprehensive representation of a sequence assembly as a text file. These tools form the backbone of sequencing informatics at the Sanger Centre and the Genome Sequencing Center. The CAF format is intentionally flexible, and our Perl and C libraries, which parse and manipulate it, provide powerful tools for creating new applications as well as wrappers to incorporate other software. The tools are available free by anonymous FTP from ftp://ftp.sanger.ac.uk/pub/badger/.

Published
1998

47. Targeted DNA-seq and RNA-seq of Reference Samples with Short-read and Long-read Sequencing.

Author

Gong B, Li D, Łabaj PP, Pan B, Novoradovskaya N, Thierry-Mieg D, Thierry-Mieg J, Chen G, Bergstrom Lucas A, LoCoco JS, Richmond TA, Tseng E, Kusko R, Happe S, Mercer TR, Pabón-Peña C, Salmans M, Tilgner HU, Xiao W, Johann DJ Jr, Jones W, Tong W, Mason CE, Kreil DP, and Xu J

Subjects
Humans, RNA-Seq, Sequence Analysis, DNA methods, Transcriptome, Sequence Analysis, RNA, Precision Medicine, High-Throughput Nucleotide Sequencing
Abstract

Next-generation sequencing (NGS) has revolutionized genomic research by enabling high-throughput, cost-effective genome and transcriptome sequencing accelerating personalized medicine for complex diseases, including cancer. Whole genome/transcriptome sequencing (WGS/WTS) provides comprehensive insights, while targeted sequencing is more cost-effective and sensitive. In comparison to short-read sequencing, which still dominates the field due to high speed and cost-effectiveness, long-read sequencing can overcome alignment limitations and better discriminate similar sequences from alternative transcripts or repetitive regions. Hybrid sequencing combines the best strengths of different technologies for a more comprehensive view of genomic/transcriptomic variations. Understanding each technology's strengths and limitations is critical for translating cutting-edge technologies into clinical applications. In this study, we sequenced DNA and RNA libraries of reference samples using various targeted DNA and RNA panels and the whole transcriptome on both short-read and long-read platforms. This study design enables a comprehensive analysis of sequencing technologies, targeting protocols, and library preparation methods. Our expanded profiling landscape establishes a reference point for assessing current sequencing technologies, facilitating informed decision-making in genomic research and precision medicine., (© 2024. This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply.)

Published
2024
Full Text
View/download PDF

48. Author Correction: Quartet RNA reference materials improve the quality of transcriptomic data through ratio-based profiling.

Author

Yu Y, Hou W, Liu Y, Wang H, Dong L, Mai Y, Chen Q, Li Z, Sun S, Yang J, Cao Z, Zhang P, Zi Y, Liu R, Gao J, Zhang N, Li J, Ren L, Jiang H, Shang J, Zhu S, Wang X, Qing T, Bao D, Li B, Li B, Suo C, Pi Y, Wang X, Dai F, Scherer A, Mattila P, Han J, Zhang L, Jiang H, Thierry-Mieg D, Thierry-Mieg J, Xiao W, Hong H, Tong W, Wang J, Li J, Fang X, Jin L, Xu J, Qian F, Zhang R, Shi L, and Zheng Y

Published
2024
Full Text
View/download PDF

49. Quartet RNA reference materials improve the quality of transcriptomic data through ratio-based profiling.

Author

Yu Y, Hou W, Liu Y, Wang H, Dong L, Mai Y, Chen Q, Li Z, Sun S, Yang J, Cao Z, Zhang P, Zi Y, Liu R, Gao J, Zhang N, Li J, Ren L, Jiang H, Shang J, Zhu S, Wang X, Qing T, Bao D, Li B, Li B, Suo C, Pi Y, Wang X, Dai F, Scherer A, Mattila P, Han J, Zhang L, Jiang H, Thierry-Mieg D, Thierry-Mieg J, Xiao W, Hong H, Tong W, Wang J, Li J, Fang X, Jin L, Xu J, Qian F, Zhang R, Shi L, and Zheng Y

Subjects
Humans, RNA genetics, Sequence Analysis, RNA methods, Quality Control, Cell Line, Reproducibility of Results, Twins, Monozygotic genetics, Transcriptome genetics, Gene Expression Profiling standards, Gene Expression Profiling methods, Reference Standards
Abstract

Certified RNA reference materials are indispensable for assessing the reliability of RNA sequencing to detect intrinsically small biological differences in clinical settings, such as molecular subtyping of diseases. As part of the Quartet Project for quality control and data integration of multi-omics profiling, we established four RNA reference materials derived from immortalized B-lymphoblastoid cell lines from four members of a monozygotic twin family. Additionally, we constructed ratio-based transcriptome-wide reference datasets between two samples, providing cross-platform and cross-laboratory 'ground truth'. Investigation of the intrinsically subtle biological differences among the Quartet samples enables sensitive assessment of cross-batch integration of transcriptomic measurements at the ratio level. The Quartet RNA reference materials, combined with the ratio-based reference datasets, can serve as unique resources for assessing and improving the quality of transcriptomic data in clinical and biological settings., (© 2023. The Author(s).)

Published
2024
Full Text
View/download PDF

50. Direct RNA sequencing of astronaut blood reveals spaceflight-associated m6A increases and hematopoietic transcriptional responses.

Author

Grigorev K, Nelson TM, Overbey EG, Houerbi N, Kim J, Najjar D, Damle N, Afshin EE, Ryon KA, Thierry-Mieg J, Thierry-Mieg D, Melnick AM, Mateus J, and Mason CE

Subjects
Humans, Transcriptome genetics, Weightlessness, Male, Hematopoiesis genetics, Nanopore Sequencing methods, Adult, RNA genetics, RNA blood, Methylation, Middle Aged, Space Flight, Astronauts, Sequence Analysis, RNA methods
Abstract

The advent of civilian spaceflight challenges scientists to precisely describe the effects of spaceflight on human physiology, particularly at the molecular and cellular level. Newer, nanopore-based sequencing technologies can quantitatively map changes in chemical structure and expression at single molecule resolution across entire isoforms. We perform long-read, direct RNA nanopore sequencing, as well as Ultima high-coverage RNA-sequencing, of whole blood sampled longitudinally from four SpaceX Inspiration4 astronauts at seven timepoints, spanning pre-flight, day of return, and post-flight recovery. We report key genetic pathways, including changes in erythrocyte regulation, stress induction, and immune changes affected by spaceflight. We also present the first m 6 A methylation profiles for a human space mission, suggesting a significant spike in m 6 A levels immediately post-flight. These data and results represent the first longitudinal long-read RNA profiles and RNA modification maps for each gene for astronauts, improving our understanding of the human transcriptome's dynamic response to spaceflight., (© 2024. The Author(s).)

Published
2024
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results