Whole-exome sequencing of Thai patients with heterotaxy-associated congenital heart disease

Chulalongkorn University (CU)

This dataset describes Illumina whole-exome sequencing of 45 unrelated Thai patients with heterotaxy or a laterality defect and complex congenital heart disease, together with parental samples where available. The study evaluated whether rare coding variants in genes involved in motile cilia function and left–right patterning explain the phenotype. Reads were aligned to GRCh38 and analysed by panel-based filtering, exome-wide review of rare homozygous and biallelic variants, and copy-number calling.