A structural variation catalogue across three ancestrally diverse Singaporean populations

Structural variants (SVs) are genomic rearrangements of more than 50 basepairs and they contribute to genetic variation and are associated with diseases. Despite being an important driver for many human diseases, the landscape of SVs in human populations remains understudied. Current SV studies using whole-genome sequencing (WGS) have a largely Eurocentric composition, with little known about SV diversity in other ancestries, particularly from Asia.

In addition, studies associating genetic variations to disease phenotypes are often designed to identify single nucleotide polymorphisms (SNPs). SVs, which impact a larger fraction of the genome compared to SNPs, are seldom analysed, and hence very little is known about the mechanisms by which SVs impact human phenotypes.

In this study, we aim to leverage the PRECISE-SG100K dataset to create a catalogue of SVs in the Singapore population and to investigate the association of SVs with phenotypic and clinical traits.