Publications
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Personal omics profiling reveals dynamic molecular and medical phenotypes.
Chen R,
Mias GI, Li-Pook-Than J, Jiang L, Lam HY, Chen R, Miriami E, Karczewski KJ, Hariharan M, Dewey FE, Cheng Y, Clark MJ, Im H, Habegger L, Balasubramanian S, O'Huallachain M, Dudley JT, Hillenmeyer S, Haraksingh R, Sharon D, Euskirchen G, Lacroute P, Bettinger K, Boyle AP, Kasowski M, Grubert F, Seki S, Garcia M, Whirl-Carrillo M, Gallardo M, Blasco MA, Greenberg PL, Snyder P, Klein TE, Altman RB, Butte AJ, Ashley EA, Gerstein M, Nadeau KC, Tang H, Snyder M.
Cell.
2012;
148
(6):
1293-307
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Cooperative transcription factor associations discovered using regulatory variation.
Karczewski KJ,
Tatonetti NP, Landt SG, Yang X, Slifer T, Altman RB, Snyder M.
Proc Natl Acad Sci U S A.
2011;
108
(32):
13353-8
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Variation in transcription factor binding among humans.
Kasowski M,
Grubert F, Heffelfinger C, Hariharan M, Asabere A, Waszak SM, Habegger L, Rozowsky J, Shi M, Urban AE, Hong MY, Karczewski KJ, Huber W, Weissman SM, Gerstein MB, Korbel JO, Snyder M.
Science.
2010;
328
(5975):
232-5
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The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes.
Montgomery SB,
Goode DL, Kvikstad E, Albers CA, Zhang ZD, Mu XJ, Ananda G, Howie B, Karczewski KJ, Smith KS, Anaya V, Richardson R, Davis J, Macarthur DG, Sidow A, Duret L, Gerstein M, Makova KD, Marchini J, McVean G, Lunter G.
Genome Res.
2013;
23
(5):
749-61
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Annotation of functional variation in personal genomes using RegulomeDB.
Boyle AP,
Hong EL, Hariharan M, Cheng Y, Schaub MA, Kasowski M, Karczewski KJ, Park J, Hitz BC, Weng S, Cherry JM, Snyder M.
Genome Res.
2012;
22
(9):
1790-7
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Chapter 7: Pharmacogenomics.
Karczewski KJ,
Daneshjou R, Altman RB.
PLoS Comput Biol.
2012;
8
(12):
e1002817
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Extensive genetic variation in somatic human tissues.
O'Huallachain M,
Karczewski KJ, Weissman SM, Urban AE, Snyder MP.
Proc Natl Acad Sci U S A.
2012;
109
(44):
18018-23
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Interpretome: a freely available, modular, and secure personal genome interpretation engine.
Karczewski KJ,
Tirrell RP, Cordero P, Tatonetti NP, Dudley JT, Salari K, Snyder M, Altman RB, Kim SK.
Pac Symp Biocomput.
2012:
339-50
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Bioinformatics challenges for personalized medicine.
Fernald GH,
Capriotti E, Daneshjou R, Karczewski KJ, Altman RB.
Bioinformatics.
2011;
27
(13):
1741-8
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Performance comparison of exome DNA sequencing technologies.
Clark MJ,
Chen R, Lam HY, Karczewski KJ, Chen R, Euskirchen G, Butte AJ, Snyder M.
Nat Biotechnol.
2011;
29
(10):
908-14
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Phased whole-genome genetic risk in a family quartet using a major allele reference sequence.
Dewey FE,
Chen R, Cordero SP, Ormond KE, Caleshu C, Karczewski KJ, Whirl-Carrillo M, Wheeler MT, Dudley JT, Byrnes JK, Cornejo OE, Knowles JW, Woon M, Sangkuhl K, Gong L, Thorn CF, Hebert JM, Capriotti E, David SP, Pavlovic A, West A, Thakuria JV, Ball MP, Zaranek AW, Rehm HL, Church GM, West JS, Bustamante CD, Snyder M, Altman RB, Klein TE, Butte AJ, Ashley EA.
PLoS Genet.
2011;
7
(9):
e1002280
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Regulatory variation within and between species.
Zheng W,
Gianoulis TA, Karczewski KJ, Zhao H, Snyder M.
Annu Rev Genomics Hum Genet.
2011:
12
327-46
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