Pre-processing of paleogenomes: mitigating reference bias and postmortem damage in ancient genome data.

Details

Ressource 1Download: 39789608_BIB_6281E750B9DB.pdf (3146.90 [Ko])
State: Public
Version: Final published version
License: CC BY-NC-ND 4.0
Serval ID
serval:BIB_6281E750B9DB
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Pre-processing of paleogenomes: mitigating reference bias and postmortem damage in ancient genome data.
Journal
Genome biology
Author(s)
Koptekin D., Yapar E., Vural K.B., Sağlıcan E., Altınışık N.E., Malaspinas A.S., Alkan C., Somel M.
ISSN
1474-760X (Electronic)
ISSN-L
1474-7596
Publication state
Published
Issued date
09/01/2025
Peer-reviewed
Oui
Volume
26
Number
1
Pages
6
Language
english
Notes
Publication types: Journal Article
Publication Status: epublish
Abstract
We investigate alternative strategies against reference bias and postmortem damage in low coverage paleogenomes. Compared to alignment to the linear reference genome, we show that masking known polymorphic sites and graph alignment effectively remove reference bias, but only starting from raw read files. We next study approaches to overcome postmortem damage: trimming, rescaling, and our newly developed algorithm, bamRefine (github.com/etkayapar/bamRefine and zenodo.org/records/14234666), masking reads only at positions possibly affected by PMD. We propose graph alignment coupled with bamRefine as a simple strategy to minimize data loss and bias, and urge the community to publish FASTQ files.
Keywords
Humans, Algorithms, DNA, Ancient/analysis, Genomics/methods, Genome, Human, Software, Ancient DNA, Graph-reference genome, Masking, Post-mortem damage, Reference bias
Pubmed
Web of science
Open Access
Yes
Create date
17/01/2025 10:32
Last modification date
25/02/2025 8:13
Usage data