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The Thai reference exome (T-REx) variant database.

Vorasuk Shotelersuk1,2, Duangdao Wichadakul3, Chumpol Ngamphiw4

  • 1Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

Clinical Genetics
|September 8, 2021
PubMed
Summary
This summary is machine-generated.

The Thai Reference Exome (T-REx) database provides the first high-density genomic variant survey for the Thai population. This resource improves genomic medicine by detailing population-specific genetic variations, including those linked to erythrocyte disorders.

Keywords:
Thaidatabasegenomic medicinepopulation geneticsprecision medicinerare disease

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Area of Science:

  • Genomics
  • Population Genetics
  • Medical Genetics

Background:

  • Genomic variant databases are crucial for medical genomics but lack representation from non-European populations.
  • Underrepresentation of diverse ancestries limits the clinical utility of genomic medicine globally.

Purpose of the Study:

  • To establish the first high-density genomic variant database for the Thai population, named the Thai Reference Exome (T-REx).
  • To characterize genetic diversity within the Thai population and identify population-specific variants.
  • To enhance the application of genomic medicine by providing a crucial reference dataset.

Main Methods:

  • Exome sequencing of 1092 unrelated Thai individuals.
  • Identification and cataloging of short variants and copy number variations.
  • Population structure analysis using principal component analysis and unsupervised clustering.

Main Results:

  • The T-REx database contains 345,681 short variants (18.27% novel) and 34,907 copy number variations.
  • Principal component analysis confirmed the Thai population's genetic similarity to East and Southeast Asian populations.
  • Unsupervised clustering identified six Thai subpopulations, indicating gene flow from neighboring regions.
  • Subpopulation-specific patterns of common pathogenic variants were observed, notably for erythrocyte disorders (e.g., HbE, G6PD Viangchan).

Conclusions:

  • The T-REx database is a significant contribution to global genomic variant resources.
  • This database will aid in filtering and prioritizing candidate pathogenic variants in the Thai population.
  • Understanding subpopulation-specific genetic patterns is vital for advancing precision medicine in Thailand and similar populations.