Leveraging Distant Relatedness to Quantify Human Mutation and Gene-Conversion Rates.

Am J Hum Genet
Authors
Keywords
Abstract

The rate at which human genomes mutate is a central biological parameter that has many implications for our ability to understand demographic and evolutionary phenomena. We present a method for inferring mutation and gene-conversion rates by using the number of sequence differences observed in identical-by-descent (IBD) segments together with a reconstructed model of recent population-size history. This approach is robust to, and can quantify, the presence of substantial genotyping error, as validated in coalescent simulations. We applied the method to 498 trio-phased sequenced Dutch individuals and inferred a point mutation rate of 1.66 × 10(-8) per base per generation and a rate of 1.26 × 10(-9) for

Year of Publication
2015
Journal
Am J Hum Genet
Volume
97
Issue
6
Pages
775-89
Date Published
2015 Dec 03
ISSN
1537-6605
URL
DOI
10.1016/j.ajhg.2015.10.006
PubMed ID
26581902
PubMed Central ID
PMC4678427
Links
Grant list
K99 GM111744 / GM / NIGMS NIH HHS / United States
R01 MH101244 / MH / NIMH NIH HHS / United States