Leveraging Distant Relatedness to Quantify Human Mutation and Gene-Conversion Rates
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 individua... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2015 |
Reihe/Periodikum: | American Journal of Human Genetics, vol 97, iss 6 |
Verlag/Hrsg.: |
eScholarship
University of California |
Schlagwörter: | Biological Sciences / Genetics / Biotechnology / Human Genome / Alleles / Gene Frequency / Genome / Human / Germ-Line Mutation / Haplotypes / Humans / INDEL Mutation / Linear Models / Models / Genetic / Mutation Rate / Recombination / Genome of the Netherlands Consortium / Medical and Health Sciences / Genetics & Heredity / Biomedical and clinical sciences / Health sciences |
Sprache: | unknown |
Permalink: | https://search.fid-benelux.de/Record/base-29158513 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://escholarship.org/uc/item/658133s8 |