| A global reference for human genetic variation 1000 Genomes Project Consortium Nature 526 (7571), 68, 2015 | 18755 | 2015 |
| An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012 | 8792 | 2012 |
| A map of human genome variation from population scale sequencing 1000 Genomes Project Consortium Nature 467 (7319), 1061, 2010 | 5230 | 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 | 2805 | 2015 |
| 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 | 1393 | 2011 |
| Great ape genetic diversity and population history J Prado-Martinez, PH Sudmant, JM Kidd, H Li, JL Kelley, ... Nature 499 (7459), 471-475, 2013 | 1065 | 2013 |
| Personalized copy number and segmental duplication maps using next-generation sequencing C Alkan, JM Kidd, T Marques-Bonet, G Aksay, F Antonacci, F Hormozdiari, ... Nature genetics 41 (10), 1061-1067, 2009 | 1022 | 2009 |
| High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios M Byrska-Bishop, US Evani, X Zhao, AO Basile, HJ Abel, AA Regier, ... Cell 185 (18), 3426-3440. e19, 2022 | 985 | 2022 |
| Multi-platform discovery of haplotype-resolved structural variation in human genomes MJP Chaisson, AD Sanders, X Zhao, A Malhotra, D Porubsky, T Rausch, ... Nature communications 10 (1), 1784, 2019 | 952 | 2019 |
| Resolving the complexity of the human genome using single-molecule sequencing MJP Chaisson, J Huddleston, MY Dennis, PH Sudmant, M Malig, ... Nature 517 (7536), 608-611, 2015 | 946 | 2015 |
| Demographic history and rare allele sharing among human populations S Gravel, BM Henn, RN Gutenkunst, AR Indap, GT Marth, AG Clark, F Yu, ... Proceedings of the National Academy of Sciences 108 (29), 11983-11988, 2011 | 790 | 2011 |
| Whole-genome sequence variation, population structure and demographic history of the Dutch population Nature genetics 46 (8), 818-825, 2014 | 772 | 2014 |
| deFuse: an algorithm for gene fusion discovery in tumor RNA-Seq data A McPherson, F Hormozdiari, A Zayed, R Giuliany, G Ha, MGF Sun, ... PLoS computational biology 7 (5), e1001138, 2011 | 654 | 2011 |
| Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases HAF Stessman, BO Xiong, BP Coe, T Wang, K Hoekzema, M Fenckova, ... Nature genetics 49 (4), 515-526, 2017 | 636 | 2017 |
| Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel O Delaneau, J Marchini Nature communications 5 (1), 3934, 2014 | 495 | 2014 |
| Global diversity, population stratification, and selection of human copy-number variation PH Sudmant, S Mallick, BJ Nelson, F Hormozdiari, N Krumm, ... Science 349 (6253), aab3761, 2015 | 438 | 2015 |
| High-resolution comparative analysis of great ape genomes ZN Kronenberg, IT Fiddes, D Gordon, S Murali, S Cantsilieris, ... Science 360 (6393), eaar6343, 2018 | 435 | 2018 |
| Integrative annotation of variants from 1092 humans: application to cancer genomics E Khurana, Y Fu, V Colonna, XJ Mu, HM Kang, T Lappalainen, A Sboner, ... Science 342 (6154), 1235587, 2013 | 435 | 2013 |
| Genomic patterns of de novo mutation in simplex autism TN Turner, BP Coe, DE Dickel, K Hoekzema, BJ Nelson, MC Zody, ... Cell 171 (3), 710-722. e12, 2017 | 403 | 2017 |
| Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes F Hormozdiari, C Alkan, EE Eichler, SC Sahinalp Genome research 19 (7), 1270-1278, 2009 | 399 | 2009 |
S. Cenk SahinalpCancer Data Science Labotatory, National Cancer Institute, NIHVerified email at nih.gov
