Ryan Poplin

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo, Eric Banks, Ryan Poplin et al. · Nature Genetics · 2011 · 12.1K citations · Full text

Dna Sequencing, Sequencing, Medicine +14

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.1K citations · Full text

Phenotypic Variation, Protein-coding Genetic Variation, Genetics +5

From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline

Geraldine Van Der Auwera, Mauricio O. Carneiro, Christopher Hartl et al. · Current Protocols in Bioinformatics · 2013 · 7K citations

Scaling accurate genetic variant discovery to tens of thousands of samples

Ryan Poplin, Valentín Ruano-Rubio, Mark A. DePristo et al. · 2017 · 2K citations · Full text

Genetics, Genetic Epidemiology, Genomics +21

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Benjamin M. Neale, Yan Kou, Li Liu et al. · Nature · 2012 · 1.8K citations · Full text

Neurodevelopmental Disorders, Autism Spectrum Disorders, Syndromic Autism +8