Analysing structural variation using reconstructed genealogies

Wednesday, 26 March 2025
at 3pm
HO Schild Pharmacology Lecture Theatre, Medical Sciences Building

Title: Analysing structural variation using reconstructed genealogies

Abstract: Detecting and analysing genomic structural variants (SVs) directly from sequencing data is very challenging. Genealogies reconstructed from sequencing data, however, explicitly describe the genetic history of the sample, and capture shared characteristic signals of recombination suppression associated with SVs. We develop a powerful statistical inference framework to detect these signals. Applying this to data from the 1000 Genomes Project identifies a number of known and novel SVs with high confidence, and allows for the genealogy-based analysis of the timing of their emergence and evolutionary history. Our results include a novel 760kb polymorphic inversion on chromosome 10, common in S. Asian populations, which spans a number of genes associated with lung function and immunity, and correlates strongly with a number of haematological traits. We also detect signals of localised recombination suppression within genes expressed during meiosis, suggestive of suppression of crossovers varying across individuals with different expression levels. The tools we develop can be readily applied to data from other species, to study the emergence and evolution of localised recombination suppression and structural variation.