Human de novo mutation rates from a four-generation pedigree reference

Human de novo mutation rates from a four-generation pedigree reference

Understanding the human de novo mutation (DNM) rate requires complete sequence information1. Here using five complementary short-read and long-read sequencing technologies, we phased and assembled more than 95% of each diploid human genome in a four-generation, twenty-eight-member family (CEPH 1463). We estimate 98–206 DNMs per transmission, including 74.5 de novo single-nucleotide variants, 7.4 non-tandem repeat indels, 65.3 de novo indels or s…

In the course of a human's life, the genetic material of a human being mutates — either by chance or through environmental influences such as chemicals or radiation. Furthermore, mutations of parents are inherited to their children. Geneticists have now determined how many individual mutations our DNA is subjected to over the course of life and which regions in the genome are particularly susceptible to such mutations. According to the researche…

Human De Novo Mutation Rates Mapped Across Generations

A groundbreaking investigation into the mutation dynamics of tandem repeats (TRs) within the human genome has revealed unprecedented insights into their de novo mutation rates, patterns of inheritance, and recurrence across multiple generations. Employing state-of-the-art high-fidelity (HiFi) long-read sequencing combined with complementary sequencing technologies, researchers meticulously genotyped an expansive collection of TR loci, offering a…

Multi-Platform Sequencing Study of Four Generations Sheds Light on Mutation Rates

Using sequencing instruments from multiple vendors, scientists from the University of Utah Health, the University of Washington, PacBio, and elsewhere have developed what they claim is the most comprehensive atlas of genetic change through familial generations. Among other details, their analysis revealed that parts of the human genome change much faster than was previously known. The study is described in a new paper that was published in Natur…