Mark DePristo

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Ryan PoplinGoogle, Inc.Adresse e-mail validée de google.com
Stacey GabrielThe Broad Institute of Harvard and MITAdresse e-mail validée de broadinstitute.org
Kiran GarimellaWellcome Trust Centre for Human Genetics, University of OxfordAdresse e-mail validée de well.ox.ac.uk
Mark DalyDirector, Institute for Molecular Medicine Finland (FIMM) & Chief, ATGU, MGH & Broad InstituteAdresse e-mail validée de atgu.mgh.harvard.edu
Aaron McKennaGeisel School of Medicine, Dartmouth CollegeAdresse e-mail validée de dartmouth.edu
Kristian CibulskisBroad InstituteAdresse e-mail validée de broadinstitute.org
Guillermo del AngelAlexion PharmaceuticalsAdresse e-mail validée de cornell.edu
Mauricio CarneiroGoogleAdresse e-mail validée de google.com
Richard DurbinDept of Genetics, University of CambridgeAdresse e-mail validée de cam.ac.uk
Goncalo AbecasisUniversity of Michigan School of Public HealthAdresse e-mail validée de umich.edu
Paul I W de BakkerVertex PharmaceuticalsAdresse e-mail validée de vrtx.com
Daniel L. HartlHiggins Professor of Biology, Harvard UniversityAdresse e-mail validée de oeb.harvard.edu
Tom L BlundellEmeritus Professor of Biochemistry, University of CambridgeAdresse e-mail validée de cam.ac.uk
Gerton LunterAssociate Professor, University of OxfordAdresse e-mail validée de well.ox.ac.uk
Adam Auton23andMeAdresse e-mail validée de 23andme.com
Manuel A. RivasAssistant Professor, Department of Biomedical Data Science, Stanford UniversityAdresse e-mail validée de stanford.edu
Daniel M WeinreichBrown UniversityAdresse e-mail validée de brown.edu
Kees AlbersEuretosAdresse e-mail validée de euretos.com

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Mark DePristo

BigHat Biosciences

Adresse e-mail validée de bighatbio.com - Page d'accueil

Genomics Computational Biology Machine Learning Artificial Intelligence Antibody engineering


Titre Trier par citations Trier par année Trier par titre	Citée par Citée par	Année
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	21660	2010
A global reference for human genetic variation 1000 Genomes Project Consortium Nature 526 (7571), 68, 2015	12562	2015
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	10680	2011
The variant call format and VCFtools P Danecek, A Auton, G Abecasis, CA Albers, E Banks, MA DePristo, ... Bioinformatics 27 (15), 2156-2158, 2011	10544	2011
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	9478	2016
A map of human genome variation from population scale sequencing 1000 Genomes Project Consortium Nature 467 (7319), 1061, 2010	8377	2010
An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012	7947	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	5565	2013
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	2026	2019
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	1921	2012
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	1493	2014
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	1395	2006
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	1275	2012
The genetic architecture of type 2 diabetes C Fuchsberger, J Flannick, TM Teslovich, A Mahajan, V Agarwala, ... Nature 536 (7614), 41-47, 2016	1120	2016
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	1038	2017
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	991	2014
Sublethal antibiotic treatment leads to multidrug resistance via radical-induced mutagenesis MA Kohanski, MA DePristo, JJ Collins Molecular cell 37 (3), 311-320, 2010	975	2010
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	920	2019
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	786	2018
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	772	2014

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