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Article

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

Genome research - 25 Aug 2022

Löytynoja Ari

Abstract excerpt

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...

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Share to DNA Replication
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35760560
DOI: 10.1101/gr.276478.121
PMCID: PMC9435742

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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