Thousands of human mutation clusters are explained by short-range template switching.

ABSTRACT: Variation within human genomes is unevenly distributed, and variants show spatial clustering. DNA replication-related template switching is a poorly known mutational mechanism capable of causing major chromosomal rearrangements as well as creating short inverted sequence copies that appear as local mutation clusters in sequence comparisons. In this study, haplotype-resolved genome assemblies representing 25 human populations and multinucleotide variants aggregated from 140,000 human sequencing experiments were reanalyzed. Local template switching could explain thousands of complex mutation clusters across the human genome, the loci segregating within and between populations. During the study, computational tools were developed for identification of template switch events using both short-r

SUBMITTER: Loytynoja A 

PROVIDER: S-EPMC9435742 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature