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Ryan Poplin
Ryan Poplin
Google DeepMind
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A global reference for human genetic variation
1000 Genomes Project Consortium
Nature 526 (7571), 68, 2015
163832015
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
122782011
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
108242016
A map of human genome variation from population scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
89892010
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
86072012
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
60192013
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
25612015
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
21002012
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
17612018
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
15892017
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
13482018
The genetic architecture of type 2 diabetes
C Fuchsberger, J Flannick, TM Teslovich, A Mahajan, V Agarwala, ...
Nature 536 (7614), 41-47, 2016
13072016
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
8102019
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
7382011
Variation in genome-wide mutation rates within and between human families
Nature genetics 43 (7), 712-714, 2011
7022011
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
6592018
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
5612014
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
4832020
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
4692014
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
3812012
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Artikelen 1–20