Extended Data Fig. 11: Detection of disease-associated variants and protein-truncating variants in MSEA populations.
From: Genome diversity and signatures of natural selection in mainland Southeast Asia
a, Frequency distribution of the ClinVar pathogenic variants in SEA3K. The classifications of autosomal-dominant (AD), autosomal recessive (AR) and unknown were based on the OMIM database. b, Number of pathogenic variants carried by each MSEA individual. c, Ten pathogenic variants specifically enriched in MSEA populations. The mapped gene, variants and risk alleles, and frequencies of risk alleles in SEA3K and other datasets are indicated. The clinical significance is indicated by the exclamation marks (pathogenic level) and stars (times of classified by previous submitter). d, Frequency distribution of an alpha-thalassemia variant in HBA2 (chromosome 16: 173598; c.427 T > C) in world populations and MSEA populations. NA, not available. e, The proportion of genes with at least one high-confidence PTVs (pie on the left), and the proportions of novel, known, heterozygous and homozygous PTVs (pie on the right) in the SEA3K dataset. f, The counts of the identified novel homozygous PTVs per individual across MSEA populations.
