Robert G. Chin

This paper introduces stLFR, a low-cost method for long DNA sequencing that enables accurate variant calling, haplotyping, and de novo assembly.

This paper develops a reflex workflow using NGS and LR-PCR to accurately detect clinically actionable variants in PMS2 exons while distinguishing them from pseudogene variants.

This study demonstrates the feasibility of whole genome sequencing of fetal genomes from amniotic fluid, revealing additional genetic and clinical information beyond chromosomal abnormalities.

This study presents a platform for high-throughput functional annotation of influenza A virus genome mutations, identifying critical residues and validating mutation effects with high accuracy.