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Mark DePristo
Mark DePristo
BigHat Biosciences
Verified email at bighatbio.com - Homepage
Title
Cited by
Cited by
Year
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
193432010
A global reference for human genetic variation
1000 Genomes Project Consortium
Nature 526 (7571), 68, 2015
106372015
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), 491-498, 2011
99912011
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
87112016
The variant call format and VCFtools
P Danecek, A Auton, G Abecasis, CA Albers, E Banks, MA DePristo, ...
Bioinformatics 27 (15), 2156-2158, 2011
86842011
A map of human genome variation from population scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
80422010
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium Corresponding Author McVean Gil A. mcvean ...
Nature 491 (7422), 56-65, 2012
7540*2012
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
48202013
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
18262012
A guide to deep learning in healthcare
A Esteva, A Robicquet, B Ramsundar, V Kuleshov, M DePristo, K Chou, ...
Nature medicine 25 (1), 24-29, 2019
14152019
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
13922014
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
13072006
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
12032012
The genetic architecture of type 2 diabetes
C Fuchsberger, J Flannick, TM Teslovich, A Mahajan, V Agarwala, ...
Nature 536 (7614), 41-47, 2016
10152016
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), 944-950, 2014
8922014
Sublethal antibiotic treatment leads to multidrug resistance via radical-induced mutagenesis
MA Kohanski, MA DePristo, JJ Collins
Molecular cell 37 (3), 311-320, 2010
8922010
Simultaneous determination of protein structure and dynamics
K Lindorff-Larsen, RB Best, MA DePristo, CM Dobson, M Vendruscolo
Nature 433 (7022), 128-132, 2005
7362005
Scaling accurate genetic variant discovery to tens of thousands of samples
R Poplin, V Ruano-Rubio, MA DePristo, TJ Fennell, MO Carneiro, ...
BioRxiv, 201178, 2018
7342018
Loss-of-Function Mutations in APOC3, Triglycerides, and Coronary Disease
TG and HDL Working Group of the Exome Sequencing Project, National Heart ...
New England Journal of Medicine 371 (1), 22-31, 2014
7022014
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
R Do, NO Stitziel, HH Won, AB Jørgensen, S Duga, P Angelica Merlini, ...
Nature 518 (7537), 102-106, 2015
6572015
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