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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
265542010
A global reference for human genetic variation
1000 Genomes Project Consortium
Nature 526 (7571), 68, 2015
162212015
The variant call format and VCFtools
P Danecek, A Auton, G Abecasis, CA Albers, E Banks, MA DePristo, ...
Bioinformatics 27 (15), 2156-2158, 2011
143292011
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
122212011
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
106722016
A map of human genome variation from population scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
89652010
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
85912012
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
59662013
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
36782019
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
20952012
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
15972014
Scaling accurate genetic variant discovery to tens of thousands of samples
R Poplin, V Ruano-Rubio, MA DePristo, TJ Fennell, MO Carneiro, ...
BioRxiv, 201178, 2017
15722017
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome
AM Wenger, P Peluso, WJ Rowell, PC Chang, RJ Hall, GT Concepcion, ...
Nature biotechnology 37 (10), 1155-1162, 2019
15432019
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
15302006
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
14262012
A universal SNP and small-indel variant caller using deep neural networks
R Poplin, PC Chang, D Alexander, S Schwartz, T Colthurst, A Ku, ...
Nature biotechnology 36 (10), 983-987, 2018
13182018
The genetic architecture of type 2 diabetes
C Fuchsberger, J Flannick, TM Teslovich, A Mahajan, V Agarwala, ...
Nature 536 (7614), 41-47, 2016
13002016
Sublethal antibiotic treatment leads to multidrug resistance via radical-induced mutagenesis
MA Kohanski, MA DePristo, JJ Collins
Molecular cell 37 (3), 311-320, 2010
11412010
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
11382014
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
8652014
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