The variant call format and VCFtools P Danecek, A Auton, G Abecasis, CA Albers, E Banks, MA DePristo, ... Bioinformatics 27 (15), 2156-2158, 2011 | 13002 | 2011 |
A map of human genome variation from population scale sequencing DM Altshuler, ES Lander, L Ambrogio, T Bloom, K Cibulskis, TJ Fennell, ... Nature 467 (7319), 1061-1073, 2010 | 8774* | 2010 |
An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012 | 8291 | 2012 |
Stampy: a statistical algorithm for sensitive and fast mapping of Illumina sequence reads G Lunter, M Goodson Genome research 21 (6), 936-939, 2011 | 1388 | 2011 |
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 | 1381 | 2012 |
Integrating mapping-, assembly-and haplotype-based approaches for calling variants in clinical sequencing applications A Rimmer, H Phan, I Mathieson, Z Iqbal, SRF Twigg, WGS500 Consortium, ... Nature genetics 46 (8), 912-918, 2014 | 1116 | 2014 |
Functionality or transcriptional noise? Evidence for selection within long noncoding RNAs J Ponjavic, CP Ponting, G Lunter Genome research 17 (5), 556-565, 2007 | 852 | 2007 |
Insights into hominid evolution from the gorilla genome sequence A Scally, JY Dutheil, LDW Hillier, GE Jordan, I Goodhead, J Herrero, ... Nature 483 (7388), 169-175, 2012 | 818 | 2012 |
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 | 715 | 2011 |
Comparative and demographic analysis of orang-utan genomes DP Locke, LDW Hillier, WC Warren, KC Worley, LV Nazareth, DM Muzny, ... Nature 469 (7331), 529-533, 2011 | 703 | 2011 |
1000 Genomes Project Analysis Group. 2011 P Danecek, A Auton, G Abecasis, CA Albers, E Banks, MA DePristo, ... The variant call format and VCFtools. Bioinformatics 27 (15), 2156-2158, 2011 | 683 | 2011 |
The bonobo genome compared with the chimpanzee and human genomes K Prüfer, K Munch, I Hellmann, K Akagi, JR Miller, B Walenz, S Koren, ... Nature 486 (7404), 527-531, 2012 | 667 | 2012 |
Dindel: accurate indel calls from short-read data CA Albers, G Lunter, DG MacArthur, G McVean, WH Ouwehand, R Durbin Genome research 21 (6), 961-973, 2011 | 555 | 2011 |
The human pancreatic islet transcriptome: expression of candidate genes for type 1 diabetes and the impact of pro-inflammatory cytokines DL Eizirik, M Sammeth, T Bouckenooghe, G Bottu, G Sisino, ... PLoS genetics 8 (3), e1002552, 2012 | 508 | 2012 |
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 | 444 | 2014 |
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders JC Taylor, HC Martin, S Lise, J Broxholme, JB Cazier, A Rimmer, ... Nature genetics 47 (7), 717-726, 2015 | 416 | 2015 |
Genomic and transcriptional co-localization of protein-coding and long non-coding RNA pairs in the developing brain J Ponjavic, PL Oliver, G Lunter, CP Ponting PLoS genetics 5 (8), e1000617, 2009 | 385 | 2009 |
Accelerated Evolution of the Prdm9 Speciation Gene across Diverse Metazoan Taxa PL Oliver, L Goodstadt, JJ Bayes, Z Birtle, KC Roach, N Phadnis, ... PLoS genetics 5 (12), e1000753, 2009 | 328 | 2009 |
A fine-scale chimpanzee genetic map from population sequencing A Auton, A Fledel-Alon, S Pfeifer, O Venn, L Ségurel, T Street, EM Leffler, ... science 336 (6078), 193-198, 2012 | 324 | 2012 |
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, ... Genome research 23 (5), 749-761, 2013 | 273 | 2013 |