Publications by authors named "Ryan Poplin"

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Evolution of Functionally Enhanced α-l-Threofuranosyl Nucleic Acid Aptamers.
Cailen M McCloskey, Qingfeng Li, Eric J Yik, Nicholas Chim, Arlene K Ngor, Ryan Poplin

ACS Synth Biol· November 2021

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Challenges of Accuracy in Germline Clinical Sequencing Data.
Ryan Poplin, Justin M Zook, Mark DePristo

JAMA· July 2021

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Identifying viruses from metagenomic data using deep learning.
Jie Ren, Kai Song, Chao Deng, Nathan A Ahlgren, Jed A Fuhrman, Ryan Poplin

Quant Biol· March 2020

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GenomeWarp: an alignment-based variant coordinate transformation.
Cory Y McLean, Yeongwoo Hwang, Ryan Poplin, Mark A DePristo

Bioinformatics· November 2019

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CrowdVariant: a crowdsourcing approach to classify copy number variants.
Peyton Greenside, Justin Zook, Marc Salit, Madeleine Cule, Ryan Poplin

Pac Symp Biocomput· August 2019

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A universal SNP and small-indel variant caller using deep neural networks.
Ryan Poplin, Pi-Chuan Chang, David Alexander, Scott Schwartz, Thomas Colthurst

Nat Biotechnol· November 2018

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Deep Learning for Predicting Refractive Error From Retinal Fundus Images.
Avinash V Varadarajan, Ryan Poplin, Katy Blumer, Christof Angermueller, Joe Ledsam

Invest Ophthalmol Vis Sci· June 2018

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In Silico Labeling: Predicting Fluorescent Labels in Unlabeled Images.
Eric M Christiansen, Samuel J Yang, D Michael Ando, Ashkan Javaherian, Gaia Skibinski, Ryan Poplin

Cell· April 2018

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Prediction of cardiovascular risk factors from retinal fundus photographs via deep learning.
Ryan Poplin, Avinash V Varadarajan, Katy Blumer, Yun Liu, Michael V McConnell

Nat Biomed Eng· March 2018

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Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.
Jason Flannick, Christian Fuchsberger, Anubha Mahajan, Tanya M Teslovich, Vineeta Agarwala, Ryan Poplin

Sci Data· January 2018

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Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.
Jason Flannick, Christian Fuchsberger, Anubha Mahajan, Tanya M Teslovich, Vineeta Agarwala, Ryan Poplin

Sci Data· December 2017

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A Low-Frequency Inactivating Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk.
Alisa Manning, Heather M Highland, Jessica Gasser, Xueling Sim, Taru Tukiainen, Ryan Poplin

Diabetes· July 2017

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The genetic architecture of type 2 diabetes.
Christian Fuchsberger, Jason Flannick, Tanya M Teslovich, Anubha Mahajan, Vineeta Agarwala, Ryan Poplin

Nature· August 2016

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Analysis of protein-coding genetic variation in 60,706 humans.
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Ryan Poplin

Nature· August 2016

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From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline.
Geraldine A Van der Auwera, Mauricio O Carneiro, Christopher Hartl, Ryan Poplin, Guillermo Del Angel

Curr Protoc Bioinformatics· July 2016

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Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome.
Manuel A Rivas, Matti Pirinen, Donald F Conrad, Monkol Lek, Emily K Tsang, Ryan Poplin

Science· May 2015

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The distribution and mutagenesis of short coding INDELs from 1,128 whole exomes.
Danny Challis, Lilian Antunes, Erik Garrison, Eric Banks, Uday S Evani, Ryan Poplin

BMC Genomics· February 2015

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Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.
Li Liu, Aniko Sabo, Benjamin M Neale, Uma Nagaswamy, Christine Stevens, Ryan Poplin

PLoS Genet· April 2013

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Patterns and rates of exonic de novo mutations in autism spectrum disorders.
Benjamin M Neale, Yan Kou, Li Liu, Avi Ma'ayan, Kaitlin E Samocha, Ryan Poplin

Nature· April 2012

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A framework for variation discovery and genotyping using next-generation DNA sequencing data.
Mark A DePristo, Eric Banks, Ryan Poplin, Kiran V Garimella, Jared R Maguire

Nat Genet· May 2011

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