| An integrated encyclopedia of DNA elements in the human genome ENCODE Project Consortium Nature 489 (7414), 57-74, 2012 | 17410 | 2012 |
| A global reference for human genetic variation 1000 Genomes Project Consortium Nature 526 (7571), 68-74, 2015 | 16303 | 2015 |
| A map of human genome variation from population-scale sequencing RM Durbin, DL Altshuler, RM Durbin, GR Abecasis, DR Bentley, ... Nature Publishing Group, 2010 | 8975* | 2010 |
| An integrated map of structural variation in 2,504 human genomes PH Sudmant, T Rausch, EJ Gardner, RE Handsaker, A Abyzov, ... Nature 526 (7571), 75-81, 2015 | 2550 | 2015 |
| Personal omics profiling reveals dynamic molecular and medical phenotypes R Chen, GI Mias, J Li-Pook-Than, L Jiang, HYK Lam, R Chen, E Miriami, ... Cell 148 (6), 1293-1307, 2012 | 1420 | 2012 |
| Mapping copy number variation by population-scale genome sequencing RE Mills, K Walter, C Stewart, RE Handsaker, K Chen, C Alkan, A Abyzov, ... Nature 470 (7332), 59-65, 2011 | 1320 | 2011 |
| A user's guide to the encyclopedia of DNA elements (ENCODE) ENCODE Project Consortium PLoS biol 9 (4), e1001046, 2011 | 877 | 2011 |
| Performance comparison of exome DNA sequencing technologies MJ Clark, R Chen, HYK Lam, KJ Karczewski, R Chen, G Euskirchen, ... Nature biotechnology 29 (10), 908-914, 2011 | 610 | 2011 |
| Deciphering protein kinase specificity through large-scale analysis of yeast phosphorylation site motifs J Mok, PM Kim, HYK Lam, S Piccirillo, X Zhou, GR Jeschke, DL Sheridan, ... Science signaling 3 (109), ra12, 2010 | 419 | 2010 |
| Performance comparison of whole-genome sequencing platforms HYK Lam, MJ Clark, R Chen, R Chen, G Natsoulis, M O'Huallachain, ... Nature biotechnology 30 (1), 78-82, 2012 | 371 | 2012 |
| A comprehensive map of mobile element insertion polymorphisms in humans C Stewart, D Kural, MP Strömberg, JA Walker, MK Konkel, AM Stütz, ... PLoS genetics 7 (8), e1002236, 2011 | 327 | 2011 |
| Circular DNA elements of chromosomal origin are common in healthy human somatic tissue HD Møller, M Mohiyuddin, I Prada-Luengo, MR Sailani, JF Halling, ... Nature communications 9 (1), 1069, 2018 | 313 | 2018 |
| Gaining comprehensive biological insight into the transcriptome by performing a broad-spectrum RNA-seq analysis SME Sahraeian, M Mohiyuddin, R Sebra, H Tilgner, PT Afshar, KF Au, ... Nature communications 8 (1), 59, 2017 | 309 | 2017 |
| Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library HYK Lam, XJ Mu, AM Stütz, A Tanzer, PD Cayting, M Snyder, PM Kim, ... Nature biotechnology 28 (1), 47-55, 2010 | 261 | 2010 |
| Genome-wide identification of binding sites defines distinct functions for Caenorhabditis elegans PHA-4/FOXA in development and environmental response M Zhong, W Niu, ZJ Lu, M Sarov, JI Murray, J Janette, D Raha, ... PLoS genetics 6 (2), e1000848, 2010 | 219 | 2010 |
| Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history PM Kim, HYK Lam, AE Urban, JO Korbel, J Affourtit, F Grubert, X Chen, ... Genome research 18 (12), 1865-1874, 2008 | 188 | 2008 |
| MetaSV: an accurate and integrative structural-variant caller for next generation sequencing M Mohiyuddin, JC Mu, J Li, NB Asadi, MB Gerstein, A Abyzov, WH Wong, ... Bioinformatics 31 (16), 2741-2744, 2015 | 167 | 2015 |
| Detecting and annotating genetic variations using the HugeSeq pipeline HYK Lam, C Pan, MJ Clark, P Lacroute, R Chen, R Haraksingh, ... Nature biotechnology 30 (3), 226-229, 2012 | 143 | 2012 |
| An ensemble approach to accurately detect somatic mutations using SomaticSeq LT Fang, PT Afshar, A Chhibber, M Mohiyuddin, Y Fan, JC Mu, G Gibeling, ... Genome biology 16 (1), 1-13, 2015 | 134 | 2015 |
| Deep convolutional neural networks for accurate somatic mutation detection SME Sahraeian, R Liu, B Lau, K Podesta, M Mohiyuddin, HYK Lam Nature communications 10 (1), 1-10, 2019 | 128 | 2019 |
