| A global reference for human genetic variation 1000 Genomes Project Consortium Nature 526 (7571), 68, 2015 | 15097 | 2015 |
| The variant call format and VCFtools P Danecek, A Auton, G Abecasis, CA Albers, E Banks, MA DePristo, ... Bioinformatics 27 (15), 2156-2158, 2011 | 13089 | 2011 |
| A map of human genome variation from population scale sequencing 1000 Genomes Project Consortium Nature 467 (7319), 1061, 2010 | 8783 | 2010 |
| An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56-65, 2012 | 8312* | 2012 |
| 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 | 2408 | 2015 |
| Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions DG Lupiáñez, K Kraft, V Heinrich, P Krawitz, F Brancati, E Klopocki, ... Cell 161 (5), 1012-1025, 2015 | 2132 | 2015 |
| The Genome of the Kinetoplastid Parasite, Leishmania major AC Ivens, CS Peacock, EA Worthey, L Murphy, G Aggarwal, M Berriman, ... Science 309 (5733), 436-442, 2005 | 1746 | 2005 |
| The DNA sequence of human chromosome 21 M Hattori, A Fujiyama, TD Taylor, H Watanabe, T Yada, HS Park, ... Nature 405 (6784), 311-319, 2000 | 1491 | 2000 |
| The DNA sequence of the human X chromosome MT Ross, DV Grafham, AJ Coffey, S Scherer, K McLay, D Muzny, ... Nature 434 (7031), 325-337, 2005 | 1395 | 2005 |
| A systematic survey of loss-of-function variants in human protein-coding genes DG MacArthur, S Balasubramanian, A Frankish, N Huang, J Morris, ... Science 335 (6070), 823-828, 2012 | 1385 | 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 | 1290 | 2011 |
| COVID-19 severity correlates with airway epithelium–immune cell interactions identified by single-cell analysis RL Chua, S Lukassen, S Trump, BP Hennig, D Wendisch, F Pott, ... Nature biotechnology 38 (8), 970-979, 2020 | 1029 | 2020 |
| Genome expansion and gene loss in powdery mildew fungi reveal tradeoffs in extreme parasitism PD Spanu, JC Abbott, J Amselem, TA Burgis, DM Soanes, K Stüber, ... Science 330 (6010), 1543-1546, 2010 | 881 | 2010 |
| The genome sequence of Atlantic cod reveals a unique immune system B Star, AJ Nederbragt, S Jentoft, U Grimholt, M Malmstrøm, TF Gregers, ... Nature 477 (7363), 207-210, 2011 | 840 | 2011 |
| Diversity of human copy number variation and multicopy genes PH Sudmant, JO Kitzman, F Antonacci, C Alkan, M Malig, A Tsalenko, ... Science 330 (6004), 641-646, 2010 | 799 | 2010 |
| 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 | 716 | 2011 |
| Formation of new chromatin domains determines pathogenicity of genomic duplications M Franke, DM Ibrahim, G Andrey, W Schwarzer, V Heinrich, R Schöpflin, ... Nature 538 (7624), 265-269, 2016 | 688 | 2016 |
| Variation in genome-wide mutation rates within and between human families Nature genetics 43 (7), 712-714, 2011 | 688 | 2011 |
| Classic selective sweeps were rare in recent human evolution RD Hernandez, JL Kelley, E Elyashiv, SC Melton, A Auton, G McVean, ... science 331 (6019), 920-924, 2011 | 527 | 2011 |
| European sea bass genome and its variation provide insights into adaptation to euryhalinity and speciation M Tine, H Kuhl, PA Gagnaire, B Louro, E Desmarais, RST Martins, ... Nature communications 5 (1), 5770, 2014 | 459 | 2014 |
Bernd TimmermannMax Planck Institute for Molecular Genetics, Berlin, GermanyVerified email at molgen.mpg.de
