Mitchell A. Bekritsky

Strelka2: fast and accurate calling of germline and somatic variants

Sangtae Kim, Konrad Scheffler, Aaron L. Halpern et al. · Nature Methods · 2018 · 1.8K citations

Life Sciences, Bioinformatics, Genetics +11

De Novo Gene Disruptions in Children on the Autistic Spectrum

Ivan Iossifov, Michael Ronemus, Dan Levy et al. · Neuron · 2012 · 1.5K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Detection of long repeat expansions from PCR-free whole-genome sequence data

Egor Dolzhenko, Joke J.F.A. van Vugt, Richard J. Shaw et al. · Genome Research · 2017 · 437 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree

Michael A. Eberle, Epameinondas Fritzilas, Peter Krusche et al. · Genome Research · 2016 · 424 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Detection of long repeat expansions from PCR-free whole-genome sequence data

Egor Dolzhenko, Joke J.F.A. van Vugt, Richard J. Shaw et al. · bioRxiv (Cold Spring Harbor Laboratory) · 2016 · 39 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17