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

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.

Publication Details

Journal
Nature
Published
2025-05-14
DOI
https://doi.org/10.1038/d41586-025-01474-5
Primary Topic
Chromosomal and Genetic Variations
Type
article
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article

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

Nature
Chromosomal and Genetic Variations
article

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

article en

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.

Nature
Openalex Percentile: Top 93%
Chromosomal and Genetic Variations
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Genomes from a four-generation family reveal the rate of new mutations · Nature (2025) | TGRS Research Map | TGRS