Copy number variation in Thai population

Area of Science:

• Genetics and Genomics
• Population Genetics
• Bioinformatics

Background:

• Copy number variation (CNV) is a significant source of genetic diversity and a factor in human evolution.
• Accurate interpretation of CNVs for clinical diagnostics necessitates comprehensive population-specific data.
• Previous research indicates that CNVs exhibit population-specific distributions.

Purpose of the Study:

• To characterize and analyze copy number variations (CNVs) within the Thai population.
• To establish a high-confidence, publicly accessible Thai CNV database.
• To compare Thai CNVs with existing global population data for evolutionary and clinical insights.

Main Methods:

• Genotyping of 3,017 unrelated Thai individuals using Illumina platforms.
• Identification of CNVs using hidden Markov model and circular binary segmentation algorithms.
• Cataloging of 23,458 high-confidence CNVs into a dedicated Thai CNV database.

Main Results:

• A median of eight autosomal CNVs per individual was identified in the Thai population.
• The vast majority (96.73%) of identified CNVs did not overlap with known chromosomal imbalance syndromes.
• While sharing some characteristics with HapMap3 populations, a significant proportion of Thai CNVs were low-frequency or unique to the Thai population.
• Hierarchical clustering of CNV frequencies aligned with established continental groupings (Africans, Europeans, Asians).

Conclusions:

• The developed Thai CNV database provides a valuable, population-specific reference for clinical interpretation.
• Understanding population-specific CNV profiles is essential for advancing genetic diagnostics in diverse ethnicities.
• This resource will aid in investigating the clinical significance of CNVs in Thai and related populations.