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

Détails

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Etat: Public
Version: Final published version
Licence: CC BY 4.0
ID Serval
serval:BIB_6950F9B87B01
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Assessing the impact of post-mortem damage and contamination on imputation performance in ancient DNA.
Périodique
Scientific reports
Auteur⸱e⸱s
Garrido Marques A., Rubinacci S., Malaspinas A.S., Delaneau O., Sousa da Mota B.
ISSN
2045-2322 (Electronic)
ISSN-L
2045-2322
Statut éditorial
Publié
Date de publication
14/03/2024
Peer-reviewed
Oui
Volume
14
Numéro
1
Pages
6227
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: epublish
Résumé
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 aDNA. In this study, we evaluated imputation performance (i) when using a genotype caller designed for aDNA, ATLAS, compared to bcftools, and (ii) when contamination is present. We evaluated imputation performance with principal component analyses and by calculating imputation error rates. With a particular focus on differently imputed sites, we found that using ATLAS prior to imputation substantially improved imputed genotypes for a very damaged ancient genome (42% PMD). Trimming the ends of the sequencing reads led to similar improvements in imputation accuracy. For the remaining genomes, ATLAS brought limited gains. Finally, to examine the effect of contamination on imputation, we added various amounts of reads from two present-day genomes to a previously downsampled high-coverage ancient genome. We observed that imputation accuracy drastically decreased for contamination rates above 5%. In conclusion, we recommend (i) accounting for PMD by either trimming sequencing reads or using a genotype caller such as ATLAS before imputing highly damaged genomes and (ii) only imputing genomes containing up to 5% of contamination.
Mots-clé
DNA, Ancient, Genotype, Genome, Genome-Wide Association Study/methods, Polymorphism, Single Nucleotide
Pubmed
Open Access
Oui
Création de la notice
18/03/2024 16:47
Dernière modification de la notice
09/08/2024 15:00
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