Work

Genomes from a four-generation family reveal the rate of new mutations

Year: 2025
Type: article
Study design: Observational Study
Abstract: The rate at which mutations arise can be estimated by studying multigenerational human families. Reference genomes have been assembled for 28 people from four generations of the same family. This publicly available resource provides insight into the mechanisms that underlie mutations in the most complex regions of the genome. Mutations occur most often in repetitive genomic regions that are difficult to sequence and assemble.
Source: Nature
Language: English
Open Access status: hybrid
Estimated APC paid: $12,690
OpenAlex ID: W4410369306
FWCI:
Cites: 5
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Related to: 10