TIGP (BIO)—Leveraging Taiwan Biobank WGS Data to Improve Precision Diagnosis and Population Health in Taiwan

Abstract

Leveraging Taiwan Biobank WGS Data to Improve Precision Diagnosis and Population Health in Taiwan 2. Whole-genome sequencing (WGS) data from the Taiwan Biobank (TWB) participants provide insights of the genetic diversity of the Taiwanese population, advancing precision medicine and population health research. We reanalyzed to generate high-confidence variant calls and allele frequencies, identifying medically actionable variants in 1.67% of individuals and carrier risks in 4.52% of couples. Using TWB data as population controls, a tiered diagnostic strategy integrating Sanger sequencing, gene panels, and exome sequencing achieved diagnostic yields of 27.8% and 48.8% in liver disease cohorts. In hearing impairment, CRYL1 rs14236 modified the effect of GJB2 p.V37I (odds ratio = 5.2, p < 6.01×10⁻⁶), while a genome-wide association study of neovascular age-related macular degeneration identified 16 risk loci, including CFH and ARMS2/HTRA1. In spinal muscular atrophy, the DRAGEN SMN Caller accurately determined SMN1 and SMN2 copy numbers with a carrier frequency of 1.55%. Mitochondrial analyses revealed 23 pathogenic variants, with one in 180 individuals carrying such variants, and associations between haplogroups M and B4b and renal function differences. Together, these findings highlight the broad utility of TWB genomic data in improving genetic diagnosis, carrier screening, and population-specific insights, paving the way toward precision health in Taiwan.

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