Article

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

2021-11-26

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. I reanalyzed haplotype-resolved genome assemblies representing 25 human p...

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Literature Corpus work: d3ccae5f-054b-57fe-a012-44de88aed83c
DOI: 10.1101/2021.11.26.470150

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