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Ryan Poplin
Ryan Poplin
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A global reference for human genetic variation
1000 Genomes Project Consortium
Nature 526 (7571), 68, 2015
14429*2015
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
114912011
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
102122016
A map of human genome variation from population scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
87172010
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
82232012
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
53392013
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
23322015
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
20002012
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
14892018
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
13232017
The genetic architecture of type 2 diabetes
C Fuchsberger, J Flannick, TM Teslovich, A Mahajan, V Agarwala, ...
Nature 536 (7614), 41-47, 2016
12302016
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
10222018
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
7072011
Variation in genome-wide mutation rates within and between human families
Nature genetics 43 (7), 712-714, 2011
6842011
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
6662019
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
5762018
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
5282014
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
4322014
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
3432020
Effect of predicted protein-truncating genetic variants on the human transcriptome
MA Rivas, M Pirinen, DF Conrad, M Lek, EK Tsang, KJ Karczewski, ...
Science 348 (6235), 666-669, 2015
3392015
El sistema no puede realizar la operación en estos momentos. Inténtalo de nuevo más tarde.
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