Semyon Kruglyak

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications

Xiaoyu Chen, Ole Schulz-Trieglaff, Richard J. Shaw et al. · Bioinformatics · 2015 · 2.3K citations · Full text

Highly Parallel SNP Genotyping

Jian‐Bing Fan, Arnold Oliphant, Richard Shen et al. · Cold Spring Harbor Symposia on Quantitative Biology · 2003 · 633 citations

Genome-wide Association Study, Human Phenotypes, Variant Interpretation +15

Equilibrium distributions of microsatellite repeat length resulting from a balance between slippage events and point mutations

Semyon Kruglyak, Richard Durrett, Malcolm D. Schug et al. · Proceedings of the National Academy of Sciences · 1998 · 435 citations · Full text

Strand Slippage, Comparative Genomics, Genetics +19

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 · 411 citations · Full text

Genetics, Genomics, Genetic Analysis +20

Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms

Come Raczy, Roman Petrovski, Christopher T. Saunders et al. · Bioinformatics · 2013 · 355 citations · Full text