Mitchell A. Bekritsky

This paper evaluates Illumina Constellation sequencing for rare disease research, showing it can detect structural variants and haplotype phasing with low DNA input and existing infrastructure.

Strelka2 is a variant calling tool that improves accuracy and reduces compute cost for germline and somatic variant detection in clinical sequencing.

The paper introduces ExpansionHunter, a tool for detecting long repeat expansions from PCR-free WGS data, achieving high sensitivity and specificity in identifying pathogenic expansions.