Elsevier

Genetics in Medicine

Volume 12, Issue 12, December 2010, Pages 765-771
Genetics in Medicine

Review
Autozygome decoded

https://doi.org/10.1097/GIM.0b013e3181fbfcc4Get rights and content
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Abstract

Consanguineous unions permit the “reunion” of ancestral chromosomal segments in a pattern referred to as “autozygosity,” which is essentially a special form of homozygosity. This has long been exploited as a gene mapping tool because it is relatively easy to track a recessive mutation by the surrounding pattern of homozygous markers. The recent advent of single nucleotide polymorphism microarrays has rapidly replaced the historical use of microsatellites for this purpose. In this review, the author discusses other exciting opportunities offered by this unique arrangement of the human genome that range from pure clinical to functional genomic applications. The emerging field of whole genome sequencing promises to unlock much of the potential of the “autozygome.”

Keywords

dispensable DNA
homozygosity mapping
mutation frequency
SNP annotation
genetics of complex diseases

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