Identity by descent between distant relatives: detection and applications

Annu Rev Genet. 2012;46:617-33. doi: 10.1146/annurev-genet-110711-155534. Epub 2012 Sep 17.


Short segments of identity by descent (IBD) between individuals with no known relationship can be detected using genome-wide single nucleotide polymorphism data and recently developed statistical methodology. Emerging applications for the detected IBD segments include IBD mapping, haplotype phase inference, genotype imputation, and inference of population structure. In this review, we explain the principles behind methods for IBD segment detection, describe recently developed methods, discuss approaches to comparing methods, and give an overview of applications.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Alleles
  • Chromosome Mapping / methods*
  • Chromosomes, Human / genetics
  • Computational Biology / methods
  • Computer Simulation
  • Gene Frequency
  • Genetic Diseases, Inborn / diagnosis
  • Genetic Diseases, Inborn / genetics
  • Genetic Predisposition to Disease
  • Genetics, Population / methods*
  • Genome-Wide Association Study / methods
  • Haplotypes
  • Humans
  • Inheritance Patterns
  • Linkage Disequilibrium
  • Pedigree*
  • Polymorphism, Single Nucleotide