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
|