Autozygome decoded View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2010-12

AUTHORS

Fowzan S Alkuraya

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." More... »

PAGES

765-771

References to SciGraph publications

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1097/gim.0b013e3181fbfcc4

    DOI

    http://dx.doi.org/10.1097/gim.0b013e3181fbfcc4

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1041190626

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/21189493


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    416 schema:name Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia. falkuraya@kfshrc.edu.sa
    417 rdf:type schema:Organization
     




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