科學研究 - Hong Kong Genome Institute - Page 2

The Hong Kong Genome Project: building genome sequencing capacity and capability for advancing genomic science in Hong Kong (只提供英文版本)

The growing needs of genetic counselling – Feasibility in utilization of tele-genetic counselling in Asia and Hong Kong (只提供英文版本)

Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations (只提供英文版本)

(此論文獲Genetics in Medicine選為2023年度五大論文之一)

INSurVeyor: improving insertion calling from short read sequencing data (只提供英文版本)

Marketing and publicity strategies for launching the pilot phase of the Hong Kong Genome Project (只提供英文版本)

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 (只提供英文版本)

Rare disease emerging as a global public health priority (只提供英文版本)

Potentials and challenges of launching the pilot phase of Hong Kong Genome Project (只提供英文版本)