Article

<i>De novo</i> structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families

2020-10-08

Abstract excerpt

Each human genome includes de novo mutations that arose during gametogenesis. While these germline mutations represent a fundamental source of new genetic diversity, they can also create deleterious alleles that impact fitness. The germline mutation rate for single nucleotide variants and factors that significantly influence this rate, such as parental age, are now well established. However, far less is known abo...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: e38d2e86-ea3a-571d-9754-52c1f21c7d66
DOI: 10.1101/2020.10.06.329011

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

<i>De novo</i> structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 familiesDOI 10.1101/2020.10.06.329011Read

The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.Semantic proximity Read

Rate of de novo mutations and the importance of father's age to disease risk.Semantic proximity Read

Germline mutation in rare diseaseSemantic proximity Read

Frequency and complexity of de novo structural mutation in autismSemantic proximity Read

Direct measure of the de novo mutation rate in autism and schizophrenia cohorts.Semantic proximity Read

New insights into the generation and role of de novo mutations in health and disease.Semantic proximity Read

Human de novo mutation rates from a four-generation pedigree reference.Semantic proximity Read

Frequency and Complexity of De Novo Structural Mutation in Autism.Semantic proximity Read

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation.Semantic proximity Read

Characteristics of de novo structural changes in the human genome.Semantic proximity Read

Deciphering the role of germline complex de novo structural variations in rare disordersSemantic proximity Read

De novo mutations in human genetic disease.Semantic proximity Read