Yoo-Jin Jiny Ha

The paper benchmarks somatic variant and indel detection at low allele fractions using short- and long-read data, finding sensitivity and precision around 80% at 300x coverage.

The paper identifies de novo mutations contributing to meningomyelocele risk by analyzing trios and finding damaging mutations in 22.3% of cases.

This paper establishes reference standards for mosaic variant analysis using a large set of simulated variants to improve detection accuracy and algorithm development.