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Pangenome-spanning epistasis and coselection analysis via de Bruijn graphs

Title: Pangenome-spanning epistasis and coselection analysis via de Bruijn graphs
Authors: Kuronen,Juri; Horsfield,Samuel T.; Pöntinen,Anna K.; Mallawaarachchi,Sudaraka; Arredondo-Alonso, Sergio; Thorpe,Harry; Gladstone,Rebecca A.; Willems, Rob J.L.; Bentley,Stephen D.; Croucher,Nicholas J.; Pensar,Johan; Lees,John A.; Tonkin-Hill,Gerry; Corander,Jukka; MMB-mcb; Infection & Immunity
Publication Year: 2024
Subject Terms: Genetics; Genetics(clinical)
Description: Studies of bacterial adaptation and evolution are hampered by the difficulty of measuring traits such as virulence, drug resistance, and transmissibility in large populations. In contrast, it is now feasible to obtain high-quality complete assemblies of many bacterial genomes thanks to scalable high-accuracy long-read sequencing technologies. To exploit this opportunity, we introduce a phenotype- and alignment-free method for discovering coselected and epistatically interacting genomic variation from genome assemblies covering both core and accessory parts of genomes. Our approach uses a compact colored de Bruijn graph to approximate the intragenome distances between pairs of loci for a collection of bacterial genomes to account for the impacts of linkage disequilibrium (LD). We demonstrate the versatility of our approach to efficiently identify associations between loci linked with drug resistance and adaptation to the hospital niche in the major human bacterial pathogens Streptococcus pneumoniae and Enterococcus faecalis.
Document Type: article in journal/newspaper
File Description: text/plain
Language: English
ISSN: 1088-9051
Relation: https://dspace.library.uu.nl/handle/1874/455730
Availability: https://dspace.library.uu.nl/handle/1874/455730
Rights: info:eu-repo/semantics/OpenAccess
Accession Number: edsbas.E8155666
Database: BASE