PQG Seminar

Olivier Delaneau

Professor, Systems and Population Genetics Group, Department of Computational Biology
University of Lausanne

Efficient imputation of low-coverage whole genome sequencing data

Low-coverage whole-genome sequencing (LC-WGS) followed by imputation has been proposed as a cost-effective genotyping approach for disease and population genetics studies. In this seminar, we describe GLIMPSE, an efficient method for phasing and imputation of LC-WGS datasets from large reference panels. We compare its performance to existing methods and show the potential of LC-WGS versus SNP arrays across multiple sequencing coverages, human populations and reference panels. As a proof of concept, we also show that 1× coverage enables effective gene expression association studies. Overall, we illustrate the benefits of low coverage sequencing followed by imputation for future genomic studies.