INSurVeyor: improving insertion calling from short read sequencing data
UniVar: A variant interpretation platform enhancing rare disease diagnosis through robust filtering and unified analysis of SNV, INDEL, CNV and SV
Accelerating genetic diagnostics in retinitis pigmentosa: implementation of a semi-automated bespoke cohort analysis workflow for Hong Kong Genome Project
Clinical and data-driven optimization of Genomiser for rare disease patients: experience from the Hong Kong Genome Project