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Bernd Timmermann
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A global reference for human genetic variation.
1000 Genomes Project Consortium
Nature 526 (7571), 68-74, 2015
12650*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
105362011
A map of human genome variation from population-scale sequencing.
1000 Genomes Project Consortium
Nature 467 (7319), 1061-73, 2010
8373*2010
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56-65, 2012
7944*2012
An integrated map of structural variation in 2,504 human genomes.
PH Sudmant, T Rausch, Gardner, EJ, RE Handsaker, A Abyzov, ...
Nature 526 (7571), 75-81, 2015
20912015
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
18592015
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
12742012
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
12052011
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
8412020
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
7302010
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
6702011
Variation in genome-wide mutation rates within and between human families
DF Conrad, JEM Keebler, MA DePristo, SJ Lindsay, Y Zhang, F Casals, ...
Nature Genetics 201, 1, 2011
658*2011
Formation of new chromatin domains determines pathogenicity of genomic duplications.
MS Franke M, Ibrahim DM, Andrey G, Schwarzer W, Heinrich V, Schöpflin R ...
Nature 538 (7624), 265-269, 2016
6122016
Classic selective sweeps were rare in recent human evolution.
RD Hernandez, JL Kelley, E Elyashiv, SC Melton, A Auton, G McVean, ...
Science 331 (6019), 920-4, 2011
4992011
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
4082013
Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel.
O Delaneau, J Marchini, 1000 Genomes Project Consortium
Nat Commun. 5 (3934), 2014
3952014
Identifying recent adaptations in large-scale genomic data.
SR Grossman, KG Andersen, I Shlyakhter, S Tabrizi, S Winnicki, A Yen, ...
Cell. 2013 Feb 14;152(4):703-13. 152 (4), 703-13, 2013
3912013
Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences
GD Poznik, Y Xue, FL Mendez, TF Willems, A Massaia, MA Wilson Sayres, ...
Nature genetics 48 (6), 593-599, 2016
3132016
A comprehensive map of mobile element insertion polymorphisms in humans.
C Stewart, D Kural, MP Strömberg, JA Walker, MK Konkel, AM Stütz, ...
PLoS Genet. 7 (8), e1002236, 2011
3062011
Deleterious-and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing
Y Xue, Y Chen, Q Ayub, N Huang, EV Ball, M Mort, AD Phillips, K Shaw, ...
The American Journal of Human Genetics 91 (6), 1022-1032, 2012
2992012
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