Article

What is the human germline mutation rate? methodological innovations, challenges, and evolutionary implications

2026-04-08

Abstract excerpt

Germline mutations are the ultimate source of heritable genetic variation, driving evolution, enabling adaptation, and underlying disease. Despite their fundamental importance, key questions remain unanswered: How frequently do germline mutations arise? Do mutation rates vary systematically across individuals, populations, and local genomic context? And what determines whether a mutation arising in a germ cell is...

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Literature Corpus work: 73e7ac30-51c5-5943-b137-f26685865e68
DOI: 10.32942/x2t083

Open publication

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