Mark DePristo

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Ryan PoplinGoogle DeepMindPreverjeni e-poštni naslov na google.com
Stacey GabrielThe Broad Institute of Harvard and MITPreverjeni e-poštni naslov na broadinstitute.org
Mark DalyDirector, Institute for Molecular Medicine Finland (FIMM) & Chief, ATGU, MGH & Broad InstitutePreverjeni e-poštni naslov na atgu.mgh.harvard.edu
Kiran GarimellaWellcome Trust Centre for Human Genetics, University of OxfordPreverjeni e-poštni naslov na well.ox.ac.uk
Aaron McKennaGeisel School of Medicine, Dartmouth CollegePreverjeni e-poštni naslov na dartmouth.edu
Kristian CibulskisBroad InstitutePreverjeni e-poštni naslov na broadinstitute.org
Guillermo del AngelAstraZeneca, Centre for Genomics ResearchPreverjeni e-poštni naslov na cornell.edu
Richard DurbinDept of Genetics, University of CambridgePreverjeni e-poštni naslov na cam.ac.uk
Goncalo AbecasisUniversity of Michigan School of Public HealthPreverjeni e-poštni naslov na umich.edu
Mauricio CarneiroGooglePreverjeni e-poštni naslov na google.com
Paul I W de BakkerVertex PharmaceuticalsPreverjeni e-poštni naslov na vrtx.com
Gerton LunterFull Professor, Groningen UniversityPreverjeni e-poštni naslov na umcg.nl
Adam Auton23andMePreverjeni e-poštni naslov na 23andme.com
Daniel L. HartlHiggins Professor of Biology, Harvard UniversityPreverjeni e-poštni naslov na oeb.harvard.edu
Manuel A. RivasAssistant Professor, Department of Biomedical Data Science, Stanford UniversityPreverjeni e-poštni naslov na stanford.edu
Tom L BlundellEmeritus Professor of Biochemistry, University of CambridgePreverjeni e-poštni naslov na cam.ac.uk
Kees AlbersScenic BiotechPreverjeni e-poštni naslov na scenicbiotech.com
Daniel M WeinreichBrown UniversityPreverjeni e-poštni naslov na brown.edu

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Mark DePristo

BigHat Biosciences

Preverjeni e-poštni naslov na bighatbio.com - Domača stran

Genomics Computational Biology Machine Learning Artificial Intelligence Antibody engineering


Naslov Razvrsti po navedbah Razvrsti po letniku Razvrsti po naslovu	Navedeno Navedeno	Leto
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	26841	2010
A global reference for human genetic variation 1000 Genomes Project Consortium Nature 526 (7571), 68, 2015	16534	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	14602	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	12288	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	10723	2016
A map of human genome variation from population scale sequencing 1000 Genomes Project Consortium Nature 467 (7319), 1061, 2010	9047	2010
An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012	8633	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	6244	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	3811	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	2095	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	1636	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	1553	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	1525	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	1427	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	1362	2018
The genetic architecture of type 2 diabetes C Fuchsberger, J Flannick, TM Teslovich, A Mahajan, V Agarwala, ... Nature 536 (7614), 41-47, 2016	1299	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	1154	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	1146	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	871	2014

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