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

ABSTRACT:

Background

Genome sequencing (GS) has revolutionised the diagnostic odyssey of patients with rare genetic diseases (RDs) and accelerated large-scale genome projects globally. However, the impact of GS on patients with RDs is yet to be investigated among genome projects in Asia. The Hong Kong Genome Project (HKGP) was implemented to benefit patients and families with RDs in Hong Kong, and to increase the inclusiveness of Chinese genomic data. This study evaluated the impact of short read GS (srGS), complemented by long read GS (lrGS) in a subset, on individuals recruited in the pilot phase of the HKGP.

Methods

GS was performed on a prospective cohort of patients with suspected genetic disease recruited by territory-wide referrals to the HKGP. All participants received srGS, w

SUBMITTER: Lam WKJ 

PROVIDER: S-EPMC11814671 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature