Mark DePristo
Mark DePristo
BigHat Biosciences
Verified email at bighatbio.com - Homepage
TitleCited byYear
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data
A McKenna, M Hanna, E Banks, A Sivachenko, K Cibulskis, A Kernytsky, ...
Genome research 20 (9), 1297-1303, 2010
119512010
A framework for variation discovery and genotyping using next-generation DNA sequencing data
MA DePristo, E Banks, R Poplin, KV Garimella, JR Maguire, C Hartl, ...
Nature genetics 43 (5), 491, 2011
69462011
A map of human genome variation from population-scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
67092010
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
62042012
Analysis of protein-coding genetic variation in 60,706 humans
M Lek, KJ Karczewski, EV Minikel, KE Samocha, E Banks, T Fennell, ...
Nature 536 (7616), 285-291, 2016
56092016
A global reference for human genetic variation
1000 Genomes Project Consortium
Nature 526 (7571), 68-74, 2015
5130*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
44462011
From FastQ data to high‐confidence variant calls: the genome analysis toolkit best practices pipeline
GA Van der Auwera, MO Carneiro, C Hartl, R Poplin, G Del Angel, ...
Current protocols in bioinformatics 43 (1), 11.10. 1-11.10. 33, 2013
25682013
Patterns and rates of exonic de novo mutations in autism spectrum disorders
BM Neale, Y Kou, L Liu, A Ma’Ayan, KE Samocha, A Sabo, CF Lin, ...
Nature 485 (7397), 242-245, 2012
14982012
A polygenic burden of rare disruptive mutations in schizophrenia
SM Purcell, JL Moran, M Fromer, D Ruderfer, N Solovieff, P Roussos, ...
Nature 506 (7487), 185-190, 2014
10782014
Darwinian evolution can follow only very few mutational paths to fitter proteins
DM Weinreich, NF Delaney, MA DePristo, DL Hartl
science 312 (5770), 111-114, 2006
10742006
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
9652012
Simultaneous determination of protein structure and dynamics
K Lindorff-Larsen, RB Best, MA DePristo, CM Dobson, M Vendruscolo
Nature 433 (7022), 128-132, 2005
6662005
Sublethal antibiotic treatment leads to multidrug resistance via radical-induced mutagenesis
MA Kohanski, MA DePristo, JJ Collins
Molecular cell 37 (3), 311-320, 2010
6592010
A framework for the interpretation of de novo mutation in human disease
KE Samocha, EB Robinson, SJ Sanders, C Stevens, A Sabo, LM McGrath, ...
Nature genetics 46 (9), 944, 2014
6412014
The genetic architecture of type 2 diabetes
C Fuchsberger, J Flannick, TM Teslovich, A Mahajan, V Agarwala, ...
Nature 536 (7614), 41-47, 2016
6262016
Missense meanderings in sequence space: a biophysical view of protein evolution
MA DePristo, DM Weinreich, DL Hartl
Nature Reviews Genetics 6 (9), 678-687, 2005
5532005
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 43 (7), 712, 2011
5092011
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia
K Musunuru, JP Pirruccello, R Do, GM Peloso, C Guiducci, C Sougnez, ...
New England Journal of Medicine 363 (23), 2220-2227, 2010
4932010
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
4722011
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Articles 1–20