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Ryan Poplin
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A global reference for human genetic variation
1000 Genomes Project Consortium
Nature 526 (7571), 68, 2015
150152015
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
117502011
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
103922016
A map of human genome variation from population scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
87742010
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
83012012
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
55352013
An integrated map of structural variation in 2,504 human genomes
PH Sudmant, T Rausch, EJ Gardner, RE Handsaker, A Abyzov, ...
Nature 526 (7571), 75-81, 2015
23942015
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
20372012
Prediction of cardiovascular risk factors from retinal fundus photographs via deep learning
R Poplin, AV Varadarajan, K Blumer, Y Liu, MV McConnell, GS Corrado, ...
Nature biomedical engineering 2 (3), 158-164, 2018
15772018
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
14052017
The genetic architecture of type 2 diabetes
C Fuchsberger, J Flannick, TM Teslovich, A Mahajan, V Agarwala, ...
Nature 536 (7614), 41-47, 2016
12492016
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
11122018
Demographic history and rare allele sharing among human populations
S Gravel, BM Henn, RN Gutenkunst, AR Indap, GT Marth, AG Clark, F Yu, ...
Proceedings of the National Academy of Sciences 108 (29), 11983-11988, 2011
7152011
Likelihood ratios for out-of-distribution detection
J Ren, PJ Liu, E Fertig, J Snoek, R Poplin, M Depristo, J Dillon, ...
Advances in neural information processing systems 32, 2019
7132019
Variation in genome-wide mutation rates within and between human families
Nature genetics 43 (7), 712-714, 2011
6882011
In silico labeling: predicting fluorescent labels in unlabeled images
EM Christiansen, SJ Yang, DM Ando, A Javaherian, G Skibinski, S Lipnick, ...
Cell 173 (3), 792-803. e19, 2018
5982018
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes
J Flannick, G Thorleifsson, NL Beer, SBR Jacobs, N Grarup, NP Burtt, ...
Nature genetics 46 (4), 357-363, 2014
5432014
Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel
O Delaneau, J Marchini
Nature communications 5 (1), 3934, 2014
4442014
Identifying viruses from metagenomic data using deep learning
J Ren, K Song, C Deng, NA Ahlgren, JA Fuhrman, Y Li, X Xie, R Poplin, ...
Quantitative Biology, 1-14, 2020
3852020
The 1000 Genomes Project: data management and community access
L Clarke, X Zheng-Bradley, R Smith, E Kulesha, C Xiao, I Toneva, ...
Nature methods 9 (5), 459-462, 2012
3452012
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