Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Multicenter Study
. 2021 Dec;100(6):703-712.
doi: 10.1111/cge.14060. Epub 2021 Sep 22.

The Thai reference exome (T-REx) variant database

Vorasuk Shotelersuk  1   2 , Duangdao Wichadakul  3 , Chumpol Ngamphiw  4 , Chalurmpon Srichomthong  1   2 , Chureerat Phokaew  1   2 , Alisa Wilantho  4 , Sujiraporn Pakchuen  4 , Vorthunju Nakhonsri  4   5 , Philip James Shaw  6 , Rujipat Wasitthankasem  4 , Jittima Piriyapongsa  4 , Pongsakorn Wangkumhang  4 , Adjima Assawapitaksakul  1   2 , Wanna Chetruengchai  1   2 , Keswadee Lapphra  7 , Athiphat Khuninthong  4 , Pattarapong Makarawate  8 , Kanya Suphapeetiporn  1   2 , Surakameth Mahasirimongkol  9 , Nusara Satproedprai  9 , Thantrira Porntaveetus  10 , Prapaporn Pisitkun  11 , Verayuth Praphanphoj  12 , Piranit Kantaputra  13 , Wichittra Tassaneeyakul  14 , Sissades Tongsima  4
Affiliations
Multicenter Study

The Thai reference exome (T-REx) variant database

Vorasuk Shotelersuk et al. Clin Genet. 2021 Dec.

Abstract

To maximize the potential of genomics in medicine, it is essential to establish databases of genomic variants for ethno-geographic groups that can be used for filtering and prioritizing candidate pathogenic variants. Populations with non-European ancestry are poorly represented among current genomic variant databases. Here, we report the first high-density survey of genomic variants for the Thai population, the Thai Reference Exome (T-REx) variant database. T-REx comprises exome sequencing data of 1092 unrelated Thai individuals. The targeted exome regions common among four capture platforms cover 30.04 Mbp on autosomes and chromosome X. 345 681 short variants (18.27% of which are novel) and 34 907 copy number variations were found. Principal component analysis on 38 469 single nucleotide variants present worldwide showed that the Thai population is most genetically similar to East and Southeast Asian populations. Moreover, unsupervised clustering revealed six Thai subpopulations consistent with the evidence of gene flow from neighboring populations. The prevalence of common pathogenic variants in T-REx was investigated in detail, which revealed subpopulation-specific patterns, in particular variants associated with erythrocyte disorders such as the HbE variant in HBB and the Viangchan variant in G6PD. T-REx serves as a pivotal addition to the current databases for genomic medicine.

Keywords: Thai; database; genomic medicine; population genetics; precision medicine; rare disease.

PubMed Disclaimer

References

REFERENCES

    1. Karczewski KJ, Francioli LC, Tiao G, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581(7809):434.
    1. Wall JD, Stawiski EW, Ratan A, et al. The GenomeAsia 100K project enables genetic discoveries across Asia. Nature. 2019;576(7785):106-111.
    1. Lee S, Seo J, Park J, et al. Korean variant archive (KOVA): a reference database of genetic variations in the Korean population. Sci Rep. 2017;7(1):4287.
    1. Kim J, Weber JA, Jho S, et al. KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses. Sci Rep. 2018;8(1):5677.
    1. Wu D, Dou J, Chai X, et al. Large-scale whole-genome sequencing of three diverse Asian populations in Singapore. Cell. 2019;179(3):736-749.e715.

Publication types

LinkOut - more resources