Mark DePristo

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Ryan PoplinGoogle, Inc.Verificeret mail på google.com
Stacey GabrielThe Broad Institute of Harvard and MITVerificeret mail på broadinstitute.org
Mark DalyDirector, Institute for Molecular Medicine Finland (FIMM) & Chief, ATGU, MGH & Broad InstituteVerificeret mail på atgu.mgh.harvard.edu
Kiran GarimellaWellcome Trust Centre for Human Genetics, University of OxfordVerificeret mail på well.ox.ac.uk
Aaron McKennaGeisel School of Medicine, Dartmouth CollegeVerificeret mail på dartmouth.edu
Kristian CibulskisBroad InstituteVerificeret mail på broadinstitute.org
Guillermo del AngelAstraZeneca, Centre for Genomics ResearchVerificeret mail på cornell.edu
Richard DurbinDept of Genetics, University of CambridgeVerificeret mail på cam.ac.uk
Goncalo AbecasisUniversity of Michigan School of Public HealthVerificeret mail på umich.edu
Mauricio CarneiroGoogleVerificeret mail på google.com
Paul I W de BakkerVertex PharmaceuticalsVerificeret mail på vrtx.com
Daniel L. HartlHiggins Professor of Biology, Harvard UniversityVerificeret mail på oeb.harvard.edu
Gerton LunterFull Professor, Groningen UniversityVerificeret mail på umcg.nl
Adam Auton23andMeVerificeret mail på 23andme.com
Manuel A. RivasAssistant Professor, Department of Biomedical Data Science, Stanford UniversityVerificeret mail på stanford.edu
Tom L BlundellEmeritus Professor of Biochemistry, University of CambridgeVerificeret mail på cam.ac.uk
Daniel M WeinreichBrown UniversityVerificeret mail på brown.edu
Kees AlbersScenic BiotechVerificeret mail på scenicbiotech.com

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Mark DePristo

BigHat Biosciences

Verificeret mail på bighatbio.com - Startside

Genomics Computational Biology Machine Learning Artificial Intelligence Antibody engineering


Titel Sortér efter henvisninger Sortér efter årstal Sortér efter titel	Citeret af Citeret af	År
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	24458	2010
A global reference for human genetic variation 1000 Genomes Project Consortium Nature 526 (7571), 68, 2015	14623*	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	12600	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	11583	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	10182	2016
A map of human genome variation from population scale sequencing 1000 Genomes Project Consortium Nature 467 (7319), 1061, 2010	8751	2010
An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012	8261	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	5395	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	2822	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	2008	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	1548	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	1463	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	1362	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	1351	2017
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	1297	2019
The genetic architecture of type 2 diabetes C Fuchsberger, J Flannick, TM Teslovich, A Mahajan, V Agarwala, ... Nature 536 (7614), 41-47, 2016	1240	2016
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	1069	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	1065	2010
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	1047	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	824	2014

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