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
161562010
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
86802011
A global reference for human genetic variation
1000 Genomes Project Consortium
Nature 526 (7571), 68, 2015
8167*2015
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
76842016
A map of human genome variation from population-scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
74252010
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
69972012
The variant call format and VCFtools
P Danecek, A Auton, G Abecasis, CA Albers, E Banks, MA DePristo, ...
Bioinformatics 27 (15), 2156-2158, 2011
63862011
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
38362013
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
17002012
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
12722014
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
12142006
1000 Genomes Project Analysis Group. The variant call format and vcftools
P Danecek, A Auton, G Abecasis, CA Albers, E Banks, MA DePristo, ...
Bioinformatics 27 (15), 2156-2158, 2011
11772011
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
11122012
The genetic architecture of type 2 diabetes
C Fuchsberger, J Flannick, TM Teslovich, A Mahajan, V Agarwala, ...
Nature 536 (7614), 41-47, 2016
8482016
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
8102019
Sublethal antibiotic treatment leads to multidrug resistance via radical-induced mutagenesis
MA Kohanski, MA DePristo, JJ Collins
Molecular cell 37 (3), 311-320, 2010
8062010
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
7912014
Simultaneous determination of protein structure and dynamics
K Lindorff-Larsen, RB Best, MA DePristo, CM Dobson, M Vendruscolo
Nature 433 (7022), 128-132, 2005
7052005
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
6142005
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
5772014
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Articles 1–20