Add to ORKGDe novo mutations (DNMs), or mutations that appear in an individual despite not being seen in their parents, are an important source of genetic variation whose impact is relevant to studies of human evolution, genetics, and disease. Utilizing high-coverage whole-genome sequencing data as part of the Trans-Omics for Precision Medicine (TOPMed) Program, we called 93,325 single-nucleotide DNMs across 1,465 trios from an array of diverse human populations, and used them to directly estimate and analyze DNM counts, rates, and spectra. We find a significant positive correlation between local recombination rate and local DNM rate, and that DNM rate explains a substantial portion (8.98 to 34.92%, depending on the model) of the genome-wide variation...
Analysis of a large whole-genome sequencing data set of 36,441 high-quality de novo mutations (DNMs)...
Establishing the age of each mutation segregating in contemporary human populations is important to ...
Mutations generate sequence diversity and provide a substrate for selection. The rate of de novo mut...
It has long been suspected that the rate of mutation varies across the human genome at a large scale...
<div><p>It has long been suspected that the rate of mutation varies across the human genome at a lar...
It has long been suspected that the rate of mutation varies across the human genome at a large scale...
Mutations create variation in the population, fuel evolution and cause genetic diseases. Current kno...
It has long been suspected that the rate of mutation varies across the human genome at a large scale...
Most human traits, ranging from physical appearance to behavior and disease susceptibility, are in p...
Studies of de novo mutation (DNM) have typically excluded some of the most repetitive and complex re...
Human germline de novo mutations (DNMs) are both a driver of evolution and an important cause of gen...
The role of de novo mutations (DNMs) in common diseases remains largely unknown. Nonetheless, the ra...
The role of de novo mutations (DNMs) in common diseases remains largely unknown. Nonetheless, the ra...
To access publisher's full text version of this article click on the hyperlink belowDe novo mutation...
Analysis of a large whole-genome sequencing data set of 36,441 high-quality de novo mutations (DNMs)...
Establishing the age of each mutation segregating in contemporary human populations is important to ...
Mutations generate sequence diversity and provide a substrate for selection. The rate of de novo mut...
It has long been suspected that the rate of mutation varies across the human genome at a large scale...
<div><p>It has long been suspected that the rate of mutation varies across the human genome at a lar...
It has long been suspected that the rate of mutation varies across the human genome at a large scale...
Mutations create variation in the population, fuel evolution and cause genetic diseases. Current kno...
It has long been suspected that the rate of mutation varies across the human genome at a large scale...
Most human traits, ranging from physical appearance to behavior and disease susceptibility, are in p...
Studies of de novo mutation (DNM) have typically excluded some of the most repetitive and complex re...
Human germline de novo mutations (DNMs) are both a driver of evolution and an important cause of gen...
The role of de novo mutations (DNMs) in common diseases remains largely unknown. Nonetheless, the ra...
The role of de novo mutations (DNMs) in common diseases remains largely unknown. Nonetheless, the ra...
To access publisher's full text version of this article click on the hyperlink belowDe novo mutation...
Analysis of a large whole-genome sequencing data set of 36,441 high-quality de novo mutations (DNMs)...
Establishing the age of each mutation segregating in contemporary human populations is important to ...
Mutations generate sequence diversity and provide a substrate for selection. The rate of de novo mut...