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7 results on '"Simpson, J.T."'

1. Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

Author

Bailey, M.H., Meyerson, W.U., Dursi, L.J., Wang, L.B., Dong, G., Liang, W.W., Weerasinghe, A., Li, S., Kelso, S., Saksena, G., Ellrott, K., Wendl, M.C., Wheeler, D.A., Getz, G., Simpson, J.T., Gerstein, M.B., Span, P.N., Sweep, F.C.G.J., Ding, L., Bailey, M.H., Meyerson, W.U., Dursi, L.J., Wang, L.B., Dong, G., Liang, W.W., Weerasinghe, A., Li, S., Kelso, S., Saksena, G., Ellrott, K., Wendl, M.C., Wheeler, D.A., Getz, G., Simpson, J.T., Gerstein, M.B., Span, P.N., Sweep, F.C.G.J., and Ding, L.

Abstract

Contains fulltext : 226004.pdf (publisher's version ) (Open Access)

Published
2020

2. Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

Author

Bailey, M.H., Meyerson, W.U., Dursi, L.J., Wang, L.B., Dong, G., Liang, W.W., Weerasinghe, A., Li, S., Kelso, S., Saksena, G., Ellrott, K., Wendl, M.C., Wheeler, D.A., Getz, G., Simpson, J.T., Gerstein, M.B., Span, P.N., Sweep, F.C.G.J., Ding, L., Bailey, M.H., Meyerson, W.U., Dursi, L.J., Wang, L.B., Dong, G., Liang, W.W., Weerasinghe, A., Li, S., Kelso, S., Saksena, G., Ellrott, K., Wendl, M.C., Wheeler, D.A., Getz, G., Simpson, J.T., Gerstein, M.B., Span, P.N., Sweep, F.C.G.J., and Ding, L.

Abstract

Contains fulltext : 226004.pdf (publisher's version ) (Open Access)

Published
2020

3. Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

Author

Bailey, M.H., Meyerson, W.U., Dursi, L.J., Wang, L.B., Dong, G., Liang, W.W., Weerasinghe, A., Li, S., Kelso, S., Saksena, G., Ellrott, K., Wendl, M.C., Wheeler, D.A., Getz, G., Simpson, J.T., Gerstein, M.B., Span, P.N., Sweep, F.C.G.J., Ding, L., Bailey, M.H., Meyerson, W.U., Dursi, L.J., Wang, L.B., Dong, G., Liang, W.W., Weerasinghe, A., Li, S., Kelso, S., Saksena, G., Ellrott, K., Wendl, M.C., Wheeler, D.A., Getz, G., Simpson, J.T., Gerstein, M.B., Span, P.N., Sweep, F.C.G.J., and Ding, L.

Abstract

Contains fulltext : 226004.pdf (publisher's version ) (Open Access)

Published
2020

4. Nanopore sequencing and assembly of a human genome with ultra-long reads

Author

Jain, M., Koren, S., Miga, K.H., Quick, J., Rand, A.C., Sasani, T.A., Tyson, J.R., Beggs, A.D., Dilthey, A.T., Fiddes, I.T., Malla, S., Marriott, H., Nieto, T., O'Grady, J., Olsen, H.E., Pedersen, B.S., Rhie, A., Richardson, H., Quinlan, A.R., Snutch, T.P., Tee, L., Paten, B., Phillippy, A.M., Simpson, J.T., Loman, N.J., Loose, M., Jain, M., Koren, S., Miga, K.H., Quick, J., Rand, A.C., Sasani, T.A., Tyson, J.R., Beggs, A.D., Dilthey, A.T., Fiddes, I.T., Malla, S., Marriott, H., Nieto, T., O'Grady, J., Olsen, H.E., Pedersen, B.S., Rhie, A., Richardson, H., Quinlan, A.R., Snutch, T.P., Tee, L., Paten, B., Phillippy, A.M., Simpson, J.T., Loman, N.J., and Loose, M.

Abstract

We report the sequencing and assembly of a reference genome for the human GM12878 Utah/Ceph cell line using the MinION (Oxford Nanopore Technologies) nanopore sequencer. 91.2 Gb of sequence data, representing ~30× theoretical coverage, were produced. Reference-based alignment enabled detection of large structural variants and epigenetic modifications. De novo assembly of nanopore reads alone yielded a contiguous assembly (NG50 ~3 Mb). Next, we developed a protocol to generate ultra-long reads (N50 > 100kb, up to 882 kb). Incorporating an additional 5×-coverage of these data more than doubled the assembly contiguity (NG50 ~6.4 Mb). The final assembled genome was 2,867 million bases in size, covering 85.8% of the reference. Assembly accuracy, after incorporating complementary short-read sequencing data, exceeded 99.8%. Ultra-long reads enabled assembly and phasing of the 4 Mb major histocompatibility complex (MHC) locus in its entirety, measurement of telomere repeat length and closure of gaps in the reference human genome assembly GRCh38.

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5. Nanopore sequencing and assembly of a human genome with ultra-long reads

Author

Jain, M., Koren, S., Miga, K.H., Quick, J., Rand, A.C., Sasani, T.A., Tyson, J.R., Beggs, A.D., Dilthey, A.T., Fiddes, I.T., Malla, S., Marriott, H., Nieto, T., O'Grady, J., Olsen, H.E., Pedersen, B.S., Rhie, A., Richardson, H., Quinlan, A.R., Snutch, T.P., Tee, L., Paten, B., Phillippy, A.M., Simpson, J.T., Loman, N.J., Loose, M., Jain, M., Koren, S., Miga, K.H., Quick, J., Rand, A.C., Sasani, T.A., Tyson, J.R., Beggs, A.D., Dilthey, A.T., Fiddes, I.T., Malla, S., Marriott, H., Nieto, T., O'Grady, J., Olsen, H.E., Pedersen, B.S., Rhie, A., Richardson, H., Quinlan, A.R., Snutch, T.P., Tee, L., Paten, B., Phillippy, A.M., Simpson, J.T., Loman, N.J., and Loose, M.

Abstract

We report the sequencing and assembly of a reference genome for the human GM12878 Utah/Ceph cell line using the MinION (Oxford Nanopore Technologies) nanopore sequencer. 91.2 Gb of sequence data, representing ~30× theoretical coverage, were produced. Reference-based alignment enabled detection of large structural variants and epigenetic modifications. De novo assembly of nanopore reads alone yielded a contiguous assembly (NG50 ~3 Mb). Next, we developed a protocol to generate ultra-long reads (N50 > 100kb, up to 882 kb). Incorporating an additional 5×-coverage of these data more than doubled the assembly contiguity (NG50 ~6.4 Mb). The final assembled genome was 2,867 million bases in size, covering 85.8% of the reference. Assembly accuracy, after incorporating complementary short-read sequencing data, exceeded 99.8%. Ultra-long reads enabled assembly and phasing of the 4 Mb major histocompatibility complex (MHC) locus in its entirety, measurement of telomere repeat length and closure of gaps in the reference human genome assembly GRCh38.

Full Text
View/download PDF

6. Nanopore sequencing and assembly of a human genome with ultra-long reads

Author

Jain, M., Koren, S., Miga, K.H., Quick, J., Rand, A.C., Sasani, T.A., Tyson, J.R., Beggs, A.D., Dilthey, A.T., Fiddes, I.T., Malla, S., Marriott, H., Nieto, T., O'Grady, J., Olsen, H.E., Pedersen, B.S., Rhie, A., Richardson, H., Quinlan, A.R., Snutch, T.P., Tee, L., Paten, B., Phillippy, A.M., Simpson, J.T., Loman, N.J., Loose, M., Jain, M., Koren, S., Miga, K.H., Quick, J., Rand, A.C., Sasani, T.A., Tyson, J.R., Beggs, A.D., Dilthey, A.T., Fiddes, I.T., Malla, S., Marriott, H., Nieto, T., O'Grady, J., Olsen, H.E., Pedersen, B.S., Rhie, A., Richardson, H., Quinlan, A.R., Snutch, T.P., Tee, L., Paten, B., Phillippy, A.M., Simpson, J.T., Loman, N.J., and Loose, M.

Abstract

We report the sequencing and assembly of a reference genome for the human GM12878 Utah/Ceph cell line using the MinION (Oxford Nanopore Technologies) nanopore sequencer. 91.2 Gb of sequence data, representing ~30× theoretical coverage, were produced. Reference-based alignment enabled detection of large structural variants and epigenetic modifications. De novo assembly of nanopore reads alone yielded a contiguous assembly (NG50 ~3 Mb). Next, we developed a protocol to generate ultra-long reads (N50 > 100kb, up to 882 kb). Incorporating an additional 5×-coverage of these data more than doubled the assembly contiguity (NG50 ~6.4 Mb). The final assembled genome was 2,867 million bases in size, covering 85.8% of the reference. Assembly accuracy, after incorporating complementary short-read sequencing data, exceeded 99.8%. Ultra-long reads enabled assembly and phasing of the 4 Mb major histocompatibility complex (MHC) locus in its entirety, measurement of telomere repeat length and closure of gaps in the reference human genome assembly GRCh38.

Full Text
View/download PDF

7. Nanopore sequencing and assembly of a human genome with ultra-long reads

Author

Jain, M., Koren, S., Miga, K.H., Quick, J., Rand, A.C., Sasani, T.A., Tyson, J.R., Beggs, A.D., Dilthey, A.T., Fiddes, I.T., Malla, S., Marriott, H., Nieto, T., O'Grady, J., Olsen, H.E., Pedersen, B.S., Rhie, A., Richardson, H., Quinlan, A.R., Snutch, T.P., Tee, L., Paten, B., Phillippy, A.M., Simpson, J.T., Loman, N.J., Loose, M., Jain, M., Koren, S., Miga, K.H., Quick, J., Rand, A.C., Sasani, T.A., Tyson, J.R., Beggs, A.D., Dilthey, A.T., Fiddes, I.T., Malla, S., Marriott, H., Nieto, T., O'Grady, J., Olsen, H.E., Pedersen, B.S., Rhie, A., Richardson, H., Quinlan, A.R., Snutch, T.P., Tee, L., Paten, B., Phillippy, A.M., Simpson, J.T., Loman, N.J., and Loose, M.

Abstract

We report the sequencing and assembly of a reference genome for the human GM12878 Utah/Ceph cell line using the MinION (Oxford Nanopore Technologies) nanopore sequencer. 91.2 Gb of sequence data, representing ~30× theoretical coverage, were produced. Reference-based alignment enabled detection of large structural variants and epigenetic modifications. De novo assembly of nanopore reads alone yielded a contiguous assembly (NG50 ~3 Mb). Next, we developed a protocol to generate ultra-long reads (N50 > 100kb, up to 882 kb). Incorporating an additional 5×-coverage of these data more than doubled the assembly contiguity (NG50 ~6.4 Mb). The final assembled genome was 2,867 million bases in size, covering 85.8% of the reference. Assembly accuracy, after incorporating complementary short-read sequencing data, exceeded 99.8%. Ultra-long reads enabled assembly and phasing of the 4 Mb major histocompatibility complex (MHC) locus in its entirety, measurement of telomere repeat length and closure of gaps in the reference human genome assembly GRCh38.

Full Text
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