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Implementation of genome sequencing in rare disease

HKGI's Publications

  • 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