Talk @EMGM2021!

Abstract

Recent advances in Low-Coverage Whole Genome Sequencing (LC-WGS) imputation allow the use of reference panels containing thousands of individuals, similarly to SNP array imputation. A key feature of LC-WGS is that it mitigates well-known problems of SNP arrays, such as ascertainment bias and the lack of a substantial proportion of rare variants. Imputation methods for LC-WGS require a matrix of Genotype Likelihoods (GL) as an input and use a reference panel of haplotypes to refine the sparsely mapped reads.