Gerstein Lab Publications

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The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes.
SB Montgomery, DL Goode, E Kvikstad, CA Albers, ZD Zhang, XJ Mu, G Ananda, B Howie, KJ Karczewski, KS Smith, V Anaya, R Richardson, J Davis, 1000 Genomes Project Consortium, DG MacArthur, A Sidow, L Duret, M Gerstein, KD Makova, J Marchini, G McVean, G Lunter (2013). Genome Res 23: 749-61.
 
 
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An integrated map of genetic variation from 1,092 human genomes.
1000 Genomes Project Consortium (2012). Nature 491:56-65
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Detecting and annotating genetic variations using the HugeSeq pipeline.
HY Lam, C Pan, MJ Clark, P Lacroute, R Chen, R Haraksingh, M O'Huallachain, MB Gerstein, JM Kidd, CD Bustamante, M Snyder (2012). Nat Biotechnol 30: 226-9.
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VAT: a computational framework to functionally annotate variants in personal genomes within a cloud-computing environment.
L Habegger, S Balasubramanian, DZ Chen, E Khurana, A Sboner, A Harmanci, J Rozowsky, D Clarke, M Snyder, M Gerstein (2012). Bioinformatics 28: 2267-9.
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A systematic survey of loss-of-function variants in human protein-coding genes.
DG MacArthur, S Balasubramanian, A Frankish, N Huang, J Morris, K Walter, L Jostins, L Habegger, JK Pickrell, SB Montgomery, CA Albers, ZD Zhang, DF Conrad, G Lunter, H Zheng, Q Ayub, MA DePristo, E Banks, M Hu, RE Handsaker, JA Rosenfeld, M Fromer, M Jin, XJ Mu, E Khurana, K Ye, M Kay, GI Saunders, MM Suner, T Hunt, IH Barnes, C Amid, DR Carvalho-Silva, AH Bignell, C Snow, B Yngvadottir, S Bumpstead, DN Cooper, Y Xue, IG Romero, 1000 Genomes Project Consortium, J Wang, Y Li, RA Gibbs, SA McCarroll, ET Dermitzakis, JK Pritchard, JC Barrett, J Harrow, ME Hurles, MB Gerstein, C Tyler-Smith (2012). Science 335:823-8.
 
 
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AlleleSeq: analysis of allele-specific expression and binding in a network framework.
J Rozowsky, A Abyzov, J Wang, P Alves, D Raha, A Harmanci, J Leng, R Bjornson, Y Kong, N Kitabayashi, N Bhardwaj, M Rubin, M Snyder, M Gerstein (2011). Mol Syst Biol 7: 522.
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A map of human genome variation from population-scale sequencing
1000 Genomes Project Consortium (2010). Nature 467:1061-73
 
 
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