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

Details

Serval ID
serval:BIB_6950F9B87B01
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Assessing the impact of post-mortem damage and contamination on imputation performance in ancient DNA.
Journal
Scientific reports
Author(s)
Garrido Marques A., Rubinacci S., Malaspinas A.S., Delaneau O., Sousa da Mota B.
ISSN
2045-2322 (Electronic)
ISSN-L
2045-2322
Publication state
Published
Issued date
14/03/2024
Peer-reviewed
Oui
Volume
14
Number
1
Pages
6227
Language
english
Notes
Publication types: Journal Article
Publication Status: epublish
Abstract
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.
Keywords
DNA, Ancient, Genotype, Genome, Genome-Wide Association Study/methods, Polymorphism, Single Nucleotide
Pubmed
Open Access
Yes
Create date
18/03/2024 17:47
Last modification date
19/03/2024 8:28
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