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Benchmarking imputation accuracy in the presence or absence of a reference panel.

Molecular biology and evolution - 1 Apr 2026

Topaloudis Alexandros, Cumer Tristan, Lavanchy Eléonore, Hewett Anna, Bachmann Salvy Marianne, Ducrest Anne-Lyse, Simon Céline, Almasi Bettina, Roulin Alexandre, Delaneau Olivier, Goudet Jérôme

Abstract excerpt

Whole genome sequencing (WGS) of a large number of samples is costly. Solutions include targeting a proportion of the genome (eg SNP arrays) or lowering the sequencing depth (low-coverage WGS, lcWGS) but both approaches suffer from either genotype missingness or uncertainty. Genomic imputation addresses this problem by inferring missing or uncertain genotypes using a collection of high quality genomic data...

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PMID: 41967458
DOI: 10.1093/molbev/msag094
PMCID: PMC13122032

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