-
1
-
-
77956642100
-
Exome sequencing identifies MLL2 mutations as a cause of kabuki syndrome
-
2-s2.0-77956642100 10.1038/ng.646
-
Ng S. B., Bigham A. W., Buckingham K. J., Hannibal M. C., McMillin M. J., Gildersleeve H. I., Beck A. E., Tabor H. K., Cooper G. M., Mefford H. C., Lee C., Turner E. H., Smith J. D., Rieder M. J., Yoshiura K.-I., Matsumoto N., Ohta T., Niikawa N., Nickerson D. A., Bamshad M. J., Shendure J., Exome sequencing identifies MLL2 mutations as a cause of kabuki syndrome. Nature Genetics 2010 42 9 790 793 2-s2.0-77956642100 10.1038/ng.646
-
(2010)
Nature Genetics
, vol.42
, Issue.9
, pp. 790-793
-
-
Ng, S.B.1
Bigham, A.W.2
Buckingham, K.J.3
Hannibal, M.C.4
McMillin, M.J.5
Gildersleeve, H.I.6
Beck, A.E.7
Tabor, H.K.8
Cooper, G.M.9
Mefford, H.C.10
Lee, C.11
Turner, E.H.12
Smith, J.D.13
Rieder, M.J.14
Yoshiura, K.-I.15
Matsumoto, N.16
Ohta, T.17
Niikawa, N.18
Nickerson, D.A.19
Bamshad, M.J.20
Shendure, J.21
more..
-
2
-
-
73349110071
-
Exome sequencing identifies the cause of a mendelian disorder
-
2-s2.0-73349110071 10.1038/ng.499
-
Ng S. B., Buckingham K. J., Lee C., Bigham A. W., Tabor H. K., Dent K. M., Huff C. D., Shannon P. T., Jabs E. W., Nickerson D. A., Shendure J., Bamshad M. J., Exome sequencing identifies the cause of a mendelian disorder. Nature Genetics 2010 42 1 30 35 2-s2.0-73349110071 10.1038/ng.499
-
(2010)
Nature Genetics
, vol.42
, Issue.1
, pp. 30-35
-
-
Ng, S.B.1
Buckingham, K.J.2
Lee, C.3
Bigham, A.W.4
Tabor, H.K.5
Dent, K.M.6
Huff, C.D.7
Shannon, P.T.8
Jabs, E.W.9
Nickerson, D.A.10
Shendure, J.11
Bamshad, M.J.12
-
3
-
-
84863556835
-
Evolution and functional impact of rare coding variation from deep sequencing of human exomes
-
10.1126/science.1219240
-
Tennessen J. A., Bigham A. W., O'Connor T. D., Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 2012 337 6090 64 69 10.1126/science.1219240
-
(2012)
Science
, vol.337
, Issue.6090
, pp. 64-69
-
-
Tennessen, J.A.1
Bigham, A.W.2
O'Connor, T.D.3
-
4
-
-
84864397328
-
Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis
-
10.1038/ng.2344
-
Emond M. J., Louie T., Emerson J., Zhao W., Mathias R. A., Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. Nature Genetics 2012 44 886 889 10.1038/ng.2344
-
(2012)
Nature Genetics
, vol.44
, pp. 886-889
-
-
Emond, M.J.1
Louie, T.2
Emerson, J.3
Zhao, W.4
Mathias, R.A.5
-
5
-
-
84863922124
-
Comprehensive molecular characterization of human colon and rectal cancer
-
10.1038/nature11252
-
Muzny D. M., Bainbridge M. N., Chang K., Comprehensive molecular characterization of human colon and rectal cancer. Nature 2012 487 330 337 10.1038/nature11252
-
(2012)
Nature
, vol.487
, pp. 330-337
-
-
Muzny, D.M.1
Bainbridge, M.N.2
Chang, K.3
-
6
-
-
84866894408
-
Comprehensive genomic characterization of squamous cell lung cancers
-
10.1038/nature11404
-
Hammerman P. S., Lawrence M. S., Voet D., Comprehensive genomic characterization of squamous cell lung cancers. Nature 2012 489 519 525 10.1038/nature11404
-
(2012)
Nature
, vol.489
, pp. 519-525
-
-
Hammerman, P.S.1
Lawrence, M.S.2
Voet, D.3
-
7
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
10.1038/nature09534
-
Abecasis G. R., Altshuler D., Auton A., A map of human genome variation from population-scale sequencing. Nature 2010 467 1061 1073 10.1038/nature09534
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
Abecasis, G.R.1
Altshuler, D.2
Auton, A.3
-
8
-
-
84975795680
-
An integrated map of genetic variation from 1,092 human genomes
-
10.1038/nature11632
-
Abecasis G. R., Auton A., Brooks L. D., An integrated map of genetic variation from 1,092 human genomes. Nature 2012 491 56 65 10.1038/nature11632
-
(2012)
Nature
, vol.491
, pp. 56-65
-
-
Abecasis, G.R.1
Auton, A.2
Brooks, L.D.3
-
9
-
-
84890087392
-
-
Simon A.,. http://www.bioinformatics.babraham.ac.uk/projects/fastqc/
-
-
-
Simon, A.1
-
10
-
-
77957151956
-
SolexaQA: At-a-glance quality assessment of lllumina second-generation sequencing data
-
2-s2.0-77957151956 10.1186/1471-2105-11-485 11485
-
Cox M. P., Peterson D. A., Biggs P. J., SolexaQA: at-a-glance quality assessment of lllumina second-generation sequencing data. BMC Bioinformatics 2010 11, article 485 2-s2.0-77957151956 10.1186/1471-2105-11-485
-
(2010)
BMC Bioinformatics
-
-
Cox, M.P.1
Peterson, D.A.2
Biggs, P.J.3
-
11
-
-
78650568308
-
SAMStat: Monitoring biases in next generation sequencing data
-
2-s2.0-78650568308 10.1093/bioinformatics/btq614
-
Lassmann T., Hayashizaki Y., Daub C. O., SAMStat: monitoring biases in next generation sequencing data. Bioinformatics 2011 27 1 130 131 2-s2.0-78650568308 10.1093/bioinformatics/btq614
-
(2011)
Bioinformatics
, vol.27
, Issue.1
, pp. 130-131
-
-
Lassmann, T.1
Hayashizaki, Y.2
Daub, C.O.3
-
12
-
-
84890099147
-
-
Wysoker A.,. http://picard.sourceforge.net
-
-
-
Wysoker, A.1
-
13
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
2-s2.0-67649884743 10.1093/bioinformatics/btp324
-
Li H., Durbin R., Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009 25 14 1754 1760 2-s2.0-67649884743 10.1093/bioinformatics/btp324
-
(2009)
Bioinformatics
, vol.25
, Issue.14
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
14
-
-
77950460661
-
Understanding mechanisms underlying human gene expression variation with RNA sequencing
-
2-s2.0-77950460661 10.1038/nature08872
-
Pickrell J. K., Marioni J. C., Pai A. A., Degner J. F., Engelhardt B. E., Nkadori E., Veyrieras J.-B., Stephens M., Gilad Y., Pritchard J. K., Understanding mechanisms underlying human gene expression variation with RNA sequencing. Nature 2010 464 7289 768 772 2-s2.0-77950460661 10.1038/nature08872
-
(2010)
Nature
, vol.464
, Issue.7289
, pp. 768-772
-
-
Pickrell, J.K.1
Marioni, J.C.2
Pai, A.A.3
Degner, J.F.4
Engelhardt, B.E.5
Nkadori, E.6
Veyrieras, J.-B.7
Stephens, M.8
Gilad, Y.9
Pritchard, J.K.10
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