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Assessing the impact of post-mortem damage and contamination on imputation performance in ancient DNA.

Scientific reports - 14 Mar 2024

Garrido Marques Antonio, Rubinacci Simone, Malaspinas Anna-Sapfo, Delaneau Olivier, Sousa da Mota Bárbara

Abstract excerpt

Low-coverage imputation is becoming ever more present in ancient DNA (aDNA) studies. Imputation pipelines commonly used for present-day genomes have been shown to yield accurate results when applied to ancient genomes. However, post-mortem damage (PMD), in the form of C-to-T substitutions at the reads termini, and contamination with DNA from closely related species can potentially affect imputation performance in...

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PMID: 38486065
DOI: 10.1038/s41598-024-56584-3
PMCID: PMC10940295

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