TIGP (BIO)—Profiling Taiwan Population Genomic Variants Reveals Medical Insights

Abstract

The Taiwan Biobank (TWB) is a valuable nationwide repository, fostering population-specific translational research. TWB has released the genomic variation for single nucleotide variants (SNV) and small insertion-deletion (INDEL) derived from around 2000 whole genome sequences (WGS). With TWB's wealth of WGS data, we aim to explore the robust minor allele frequency (MAF) by multiple reanalyzing strategies, including precisionFDA challenge-winning methods, the materials from the Genome In A Bottle (GIAB) consortiums, ensuring the overall variant calling accuracy for improving molecular diagnosis. A unified cohort-level dataset can provide comprehensive genomic medicine insights, revealing thousands of globally novel variants per individual. The study found 75.3% (831/1103) of Taiwanese individuals harbored at least one PharmGKB-selected high evidence level Human Leukocyte Antigen (HLA) risk allele. We also identified 23 small variants from the American College of Medical Genetics and Genomics (ACMG) secondary finding V3 gene list among participants, signifying a 1.67% (25/1496) prevalence of medically actionable variants in the population. We also analyzed large germline deletion and calculated the carrier rate for alpha thalassemia was about 5.12% (76/1484). For complex genetic variation, we explored another common congenital disease gene, SMN1 for spinal muscular atrophy (SMA), and identified a 1.3% (20/1484) population carrier rate. With the affordability of WGS becoming pervasive, this study encapsulates the intricate clinical significance of genomic profile, offering a comprehensive perspective for both populations and individuals. The outcomes have far-reaching implications, enhancing translational genomic and precision medicine initiatives.

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