Mark DePristo

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Ryan PoplinGoogle DeepMindE-mail confirmado em google.com
Stacey GabrielThe Broad Institute of Harvard and MITE-mail confirmado em broadinstitute.org
Mark DalyDirector, Institute for Molecular Medicine Finland (FIMM) & Chief, ATGU, MGH & Broad InstituteE-mail confirmado em atgu.mgh.harvard.edu
Kiran GarimellaWellcome Trust Centre for Human Genetics, University of OxfordE-mail confirmado em well.ox.ac.uk
Aaron McKennaGeisel School of Medicine, Dartmouth CollegeE-mail confirmado em dartmouth.edu
Kristian CibulskisBroad InstituteE-mail confirmado em broadinstitute.org
Guillermo del AngelAstraZeneca, Centre for Genomics ResearchE-mail confirmado em cornell.edu
Richard DurbinDept of Genetics, University of CambridgeE-mail confirmado em cam.ac.uk
Goncalo AbecasisUniversity of Michigan School of Public HealthE-mail confirmado em umich.edu
Mauricio CarneiroGoogleE-mail confirmado em google.com
Gerton LunterFull Professor, Groningen UniversityE-mail confirmado em umcg.nl
Adam Auton23andMeE-mail confirmado em 23andme.com
Paul I W de BakkerVertex PharmaceuticalsE-mail confirmado em vrtx.com
Daniel L. HartlHiggins Professor of Biology, Harvard UniversityE-mail confirmado em oeb.harvard.edu
Manuel A. RivasAssistant Professor, Department of Biomedical Data Science, Stanford UniversityE-mail confirmado em stanford.edu
Tom L BlundellEmeritus Professor of Biochemistry, University of CambridgeE-mail confirmado em cam.ac.uk
Kees AlbersScenic BiotechE-mail confirmado em scenicbiotech.com
Daniel M WeinreichBrown UniversityE-mail confirmado em brown.edu

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Mark DePristo

BigHat Biosciences

E-mail confirmado em bighatbio.com - Página inicial

Genomics Computational Biology Machine Learning Artificial Intelligence Antibody engineering


Título Ordenar por citações Ordenar por ano Ordenar por título	Citado por Citado por	Ano
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	27055	2010
A global reference for human genetic variation 1000 Genomes Project Consortium Nature 526 (7571), 68, 2015	16697	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	14745	2011
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	12351	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	10762	2016
A map of human genome variation from population scale sequencing 1000 Genomes Project Consortium Nature 467 (7319), 1061, 2010	9070	2010
An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012	8657	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	6294	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	3940	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	2096	2012
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	1664	2017
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	1613	2014
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	1581	2019
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	1530	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	1431	2012
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	1389	2018
The genetic architecture of type 2 diabetes C Fuchsberger, J Flannick, TM Teslovich, A Mahajan, V Agarwala, ... Nature 536 (7614), 41-47, 2016	1304	2016
Sublethal antibiotic treatment leads to multidrug resistance via radical-induced mutagenesis MA Kohanski, MA DePristo, JJ Collins Molecular cell 37 (3), 311-320, 2010	1160	2010
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	1154	2014
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	879	2014

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