Genetic Diagnosis of Children With Neurodevelopmental Disorders Using Whole Genome Sequencing

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 · 12.4K citations · Full text

Life Sciences, Bioinformatics, Genetics +14

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

Nilah M. Ioannidis, Joseph H. Rothstein, Vikas Pejaver et al. · The American Journal of Human Genetics · 2016 · 3K citations · Full text

Life Sciences, Bioinformatics, Genetics +14

Predicting Splicing from Primary Sequence with Deep Learning

Kishore Jaganathan, Sofia Kyriazopoulou Panagiotopoulou, Jeremy F. McRae et al. · Cell · 2019 · 2.9K citations · Full text

Life Sciences, Bioinformatics, Computer Science +14

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

Erin Rooney Riggs, Erica Andersen, Athena M. Cherry et al. · Genetics in Medicine · 2019 · 1.8K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives

Min Zhao, Qingguo Wang, Quan Wang et al. · BMC Bioinformatics · 2013 · 594 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17