Seuraa
Mark DePristo
Mark DePristo
BigHat Biosciences
Vahvistettu sähköpostiosoite verkkotunnuksessa bighatbio.com - Kotisivu
Nimike
Viittaukset
Viittaukset
Vuosi
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
244722010
A global reference for human genetic variation
1000 Genomes Project Consortium
Nature 526 (7571), 68, 2015
14635*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
126162011
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
115892011
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
101882016
A map of human genome variation from population scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
87552010
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
82622012
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
54002013
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
28282019
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
20092012
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
15482014
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
14632006
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
13622012
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
13512017
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
13002019
The genetic architecture of type 2 diabetes
C Fuchsberger, J Flannick, TM Teslovich, A Mahajan, V Agarwala, ...
Nature 536 (7614), 41-47, 2016
12412016
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
10692014
Sublethal antibiotic treatment leads to multidrug resistance via radical-induced mutagenesis
MA Kohanski, MA DePristo, JJ Collins
Molecular cell 37 (3), 311-320, 2010
10662010
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
10492018
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
8242014
Järjestelmä ei voi suorittaa toimenpidettä nyt. Yritä myöhemmin uudelleen.
Artikkelit 1–20