Understanding population-scale structural variation using long-read genomics | LC26

Abstract
Understanding structural variation (SV) across human populations and disease contexts requires both comprehensive sequencing and analytical frameworks that capture genomic complexity. This talk presents our recent work applying Oxford Nanopore Technologies (ONT) long-read sequencing to 1,019 individuals from the 1000 Genomes Project. We integrated linear and pan-genome graph approaches to discover more than 167,000 sequence-resolved structural variants across all major SV classes. Long reads enabled precise characterization of mobile element insertions, complex inversions, and repeat-associated SV formation mechanisms, providing a high-resolution view of human structural variation. This open dataset illustrates how long reads improve the detection and interpretation of polymorphic SVs at population scale. Extending these principles to cancer, we demonstrate how long-read sequencing enables haplotype-resolved reconstruction of somatic chromosomal rearrangements, and how joint analysis of genetic and epigenetic signals implicates somatic retrotransposition as an active driver of cancer genome instability.

Biography
Tobias Rausch has a background in computer science and works at the European Molecular Biology Laboratory (EMBL) as a senior bioinformatician. His research interests include population and cancer genomics, the discovery and characterization of structural variants, and the development of algorithms for analyzing long-read sequencing data.