Samuel K. Lee

The paper improves genome inference by introducing haplotype sampling and polishing workflows, enhancing variant detection in the 1000 Genomes Project cohort.

The paper analyzes long-read sequencing data from the All of Us Research Program to identify structural variants and their associations with diseases in a large cohort of Black or African American participants.

The paper identifies a common flanking variant linked to increased meiotic stability at the FGF14-SCA27B repeat locus.

GATK-gCNV detects rare copy number variants from exome sequencing data, achieving high recall in benchmarking and generating a reference catalog of rare coding CNVs in the UK Biobank.