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Efficient phasing and imputation of low-coverage sequencing data using large reference panels.

Nature genetics - 1 Jan 2021

Rubinacci Simone, Ribeiro Diogo M, Hofmeister Robin J, Delaneau Olivier

Abstract excerpt

Low-coverage whole-genome sequencing followed by imputation has been proposed as a cost-effective genotyping approach for disease and population genetics studies. However, its competitiveness against SNP arrays is undermined because current imputation methods are computationally expensive and unable to leverage large reference panels. Here, we describe a method, GLIMPSE, for phasing and imputation of low-coverage...

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PMID: 33414550
DOI: 10.1038/s41588-020-00756-0

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