Hong Kong Genome Institute 香港基因組中心

香港基因組中心的科學刊物

• A report and review of the recurrent c.811C>T variant and mutation spectrum of Kindler syndrome in East Asians: a diagnostic odyssey of 2 weeks versus 49 years

• The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project

• Accelerating genetic diagnostics in retinitis pigmentosa: implementation of a semi-automated bespoke cohort analysis workflow for Hong Kong Genome Project

• Identification of technically challenging variants: Whole-genome sequencing improves diagnostic yield in patients with high clinical suspicion of rare diseases

• Clinical and data-driven optimization of Genomiser for rare disease patients: experience from the Hong Kong Genome Project