Oxford Nanopore sequencing of the UK Biobank | LC26

Abstract
The UK Biobank is a foundational population-scale resource integrating genomic data with extensive phenotypic, clinical, and longitudinal health information, but has to date relied on short-read sequencing and lacked direct measurement of epigenetic variation. To address this, a large-scale effort is underway to sequence 50,000 UK participants using Oxford Nanopore sequencing, generating one of the first population-scale datasets integrating genetic and epigenetic information. Here, we present initial results from the first 5,000 genomes sequenced to ~30x coverage. Long-read data enables joint profiling of single nucleotide variants, structural variants, and native DNA methylation, alongside haplotype-resolved assemblies. By integrating long-read genetic and epigenetic data with the rich phenotypic and health records available in the UK Biobank, this dataset enables epigenome-wide association studies (EWAS). Allowing systematic investigation of methylation and all genetic variation in relation to complex traits and diseases.

Biography
Brynja Sigurpálsdóttir is a research scientist at Amgen deCODE genetics. She studied Biomedical Engineering at Reykjavík University, earned an MSc in Computational Biology and Bioinformatics at ETH Zurich in 2019, then joined Amgen deCODE Genetics and pursued a PhD on long-read DNA methylation sequencing analysis. Her research focuses on integrating genetic and epigenetic variation in large-scale human genomics datasets, methylation profiling, and epigenome-wide association studies (EWAS).