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Methods Mol Biol. 2013;1019:331-45. doi: 10.1007/978-1-62703-447-0_14.

Detecting regions of homozygosity to map the cause of recessively inherited disease.

Author information

1
Division of Animal, Food, and Health Sciences, CSIRO, Queensland Bioscience Precinct, Brisbane, QLD, Australia.

Abstract

Homozygosity is a component of genetic patterning that can be used to search for the cause of genetic disease. In this chapter, methods are presented to analyze SNP data for the presence of homozygosity. Two exercises demonstrate methods to define runs of homozygosity, to identify shared homozygosity between individuals, and to evaluate the results in light of the expectations of a recessively inherited genetic disorder. An example dataset is used to aid in data interpretation.

PMID:
23756898
DOI:
10.1007/978-1-62703-447-0_14
[Indexed for MEDLINE]

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