Estimating recombination rates from genetic variation in humans

Adam Auton, Gil McVean

Research output: Chapter in Book/Report/Conference proceedingChapter

14 Scopus citations

Abstract

Recombination acts to shuffle the existing genetic variation within a population, leading to various approaches for detecting its action and estimating the rate at which it occurs. Here, we discuss the principal methodological and analytical approaches taken to understanding the distribution of recombination across the human genome. We first discuss the detection of recent crossover events in both well-characterised pedigrees and larger populations with extensive recent shared ancestry. We then describe approaches for learning about the fine-scale structure of recombination rate variation from patterns of genetic variation in unrelated individuals. Finally, we show how related approaches using individuals of admixed ancestry can provide an alternative approach to analysing recombination. Approaches differ not only in the statistical methods used, but also in the resolution of inference, the timescale over which recombination events are detected, and the extent to which inter-individual variation can be identified.

Original languageEnglish (US)
Title of host publicationEvolutionary Genomics
Subtitle of host publicationStatistical and Computational Methods, Volume 2
EditorsMaria Anisimova, Maria Anisimova
Pages217-237
Number of pages21
DOIs
StatePublished - Apr 30 2012

Publication series

NameMethods in Molecular Biology
Volume856
ISSN (Print)1064-3745

Keywords

  • Admixture
  • Linkage disequilibrium
  • Pedigree analysis
  • Recombination

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics

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  • Cite this

    Auton, A., & McVean, G. (2012). Estimating recombination rates from genetic variation in humans. In M. Anisimova, & M. Anisimova (Eds.), Evolutionary Genomics: Statistical and Computational Methods, Volume 2 (pp. 217-237). (Methods in Molecular Biology; Vol. 856). https://doi.org/10.1007/978-1-61779-585-5_9