| 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 | 26740 | 2010 |
| A global reference for human genetic variation 1000 Genomes Project Consortium Nature 526 (7571), 68, 2015 | 16400 | 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 | 14523 | 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 | 12287 | 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 | 10712 | 2016 |
| A map of human genome variation from population scale sequencing 1000 Genomes Project Consortium Nature 467 (7319), 1061, 2010 | 8989 | 2010 |
| An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012 | 8608 | 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 | 6025 | 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 | 3787 | 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 | 2100 | 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 | 1603 | 2014 |
| 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 | 1590 | 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 | 1555 | 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 | 1541 | 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 | 1428 | 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 | 1340 | 2018 |
| The genetic architecture of type 2 diabetes C Fuchsberger, J Flannick, TM Teslovich, A Mahajan, V Agarwala, ... Nature 536 (7614), 41-47, 2016 | 1307 | 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 | 1150 | 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 | 1148 | 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 | 869 | 2014 |
Ryan PoplinGoogle DeepMindgoogle.com의 이메일 확인됨