John West

Accurate whole human genome sequencing using reversible terminator chemistry

David Bentley, Shankar Balasubramanian, Harold Swerdlow et al. · Nature · 2008 · 3.8K citations · Full text

Life Sciences, Biology, Genetics +11

Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence

Frederick E. Dewey, Rong Chen, Sergio Cordero et al. · PLoS Genetics · 2011 · 148 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A variant by any name: quantifying annotation discordance across tools and clinical databases

Jennifer Yen, Sarah Garcia, Aldrin Montana et al. · Genome Medicine · 2017 · 78 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

High prevalence of focal and multi-focal somatic genetic variants in the human brain

Michael J. Keogh, Wei Wei, Juvid Aryaman et al. · Nature Communications · 2018 · 77 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Achieving high-sensitivity for clinical applications using augmented exome sequencing

Anil Patwardhan, Jason Harris, Nan Leng et al. · Genome Medicine · 2015 · 58 citations · Full text

Life Sciences, Bioinformatics, Molecular Genetics +10