Research - Hong Kong Genome Institute - Page 2

The Hong Kong Genome Project: building genome sequencing capacity and capability for advancing genomic science in Hong Kong

The growing needs of genetic counselling – Feasibility in utilization of tele-genetic counselling in Asia and Hong Kong

Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations

(This research paper was named Editor’s Choice of top five papers in 2023 by Genetics in Medicine)

INSurVeyor: improving insertion calling from short read sequencing data

Marketing and publicity strategies for launching the pilot phase of the Hong Kong Genome Project

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

Rare disease emerging as a global public health priority

Potentials and challenges of launching the pilot phase of Hong Kong Genome Project