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Article

Genotype imputation from low-coverage data for medical and population genetic analyses.

Genome research - 2 Sept 2025

Biagini Simone Andrea, Becelaere Sara, Aerden Mio, Jatsenko Tatjana, Hannes Laurens, Van Damme Philip, Breckpot Jeroen, Devriendt Koenraad, Thienpont Bernard, Vermeesch Joris Robert, Cleynen Isabelle, Kivisild Toomas

Abstract excerpt

Genotype imputation from low-pass sequencing data presents unique opportunities for genomic analyses but comes with specific challenges. In this study, we explore the impact of quality filters on genetic ancestry and Polygenic Score (PGS) estimation after imputing 32,769 low-pass genome-wide sequences (LPS) from noninvasive prenatal screening (NIPS) with an average autosomal sequence depth of ∼0.15×. In studies...

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Identifiers

PMID: 40695596
DOI: 10.1101/gr.280175.124
PMCID: PMC12400947

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