TIGP (BIO)—Leveraging Genomic Data for Precision Diagnosis and Population Health Insights in Taiwan

Abstract

The Taiwan Biobank (TWB) offers an extensive genomic dataset representing the Taiwanese population, enabling transformative advances in precision medicine and public health. We reanalyzed whole-genome sequences (WGS) from 1,496 TWB participants, generating high-confidence variant calls and precise minor allele frequency (MAF) profiles. Medically actionable variants were detected in 1.67% of individuals, while 4.52% of couples were identified as carriers at risk of transmitting pathogenic variants. Utilizing accurate MAF data alongside a real-world liver disease cohort, we designed a tiered diagnostic approach combining Sanger sequencing, targeted gene panels, and whole-exome sequencing (WES), achieving a diagnostic yield of 27.8% and 48.8% with a focused panel and whole-exome, respectively. TWB WGS data also proved invaluable as a population control in case-control genetic studies. In sensorineural hearing impairment (SNHI), we discovered that the CRYL1 rs14236 variant modifies the phenotype of the GJB2 p.V37I mutation (odds ratio = 5.2, p < 6.01×10⁻⁶). Another scenario is a genome-wide association study (GWAS) of neovascular age-related macular degeneration (nAMD), which identified 16 risk loci, including novel variants and established genes such as CFH and ARMS2/HTRA1, with three loci linked to poor therapeutic response. Collectively, these analytical workflows and tools demonstrate the power of integrating comprehensive genomic data to advance precision diagnostics and generate actionable insights for population health management.

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