Ryan Poplin
Ryan Poplin
google.com üzerinde doğrulanmış e-posta adresine sahip - Ana Sayfa
Başlık
Alıntı yapanlar
Alıntı yapanlar
Yıl
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
90542011
A global reference for human genetic variation
1000 Genomes Project Consortium
Nature 526 (7571), 68, 2015
88762015
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
81222016
A map of human genome variation from population scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
75672010
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56-65, 2012
71682012
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
41682013
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
17642012
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
16182015
The genetic architecture of type 2 diabetes
C Fuchsberger, J Flannick, TM Teslovich, A Mahajan, V Agarwala, ...
Nature 536 (7614), 41-47, 2016
9092016
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
7912018
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
5902011
Variation in genome-wide mutation rates within and between human families
DF Conrad, JEM Keebler, MA DePristo, SJ Lindsay, Y Zhang, F Casals, ...
Nature genetics 43 (7), 712, 2011
5902011
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
4492017
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
429*2018
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
4192014
Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel
O Delaneau, J Marchini
Nature communications 5 (1), 1-9, 2014
3132014
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
3092018
The functional spectrum of low-frequency coding variation
GT Marth, F Yu, AR Indap, K Garimella, S Gravel, WF Leong, ...
Genome biology 12 (9), 1-17, 2011
2302011
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
2292015
Likelihood ratios for out-of-distribution detection
J Ren, PJ Liu, E Fertig, J Snoek, R Poplin, MA DePristo, JV Dillon, ...
arXiv preprint arXiv:1906.02845, 2019
2172019
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