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

  • 2010-12. Comparative assessment of methods for estimating individual genome-wide homozygosity-by-descent from human genomic data in BMC GENOMICS
  • 2008-01. Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 1999-09. Inbreeding depression in the wild in HEREDITY
  • 2000-03. The ecological cost of sex in NATURE
  • 2010-01. Exome sequencing identifies the cause of a mendelian disorder in NATURE GENETICS
  • 2010-02. Target-enrichment strategies for next-generation sequencing in NATURE METHODS
  • 1977-01. On consanguineous marriages and the genetic load in HUMAN GENETICS
  • 2006-02. Structural variation in the human genome in NATURE REVIEWS GENETICS
  • 2006-12. Clinical applications of Genome Polymorphism Scans in BIOLOGY DIRECT
  • 2006-11. Pitfalls of homozygosity mapping: an extended consanguineous Bardet–Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2008-10. Next-generation DNA sequencing in NATURE BIOTECHNOLOGY
  • 2009-09-10. Targeted capture and massively parallel sequencing of 12 human exomes in NATURE
  • 2006-12. Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone–rod dystrophy in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2003-12. The International HapMap Project in NATURE
  • 2007-03. Misleading findings of homozygosity mapping resulting from three novel mutations in NPHS1 encoding nephrin in a highly inbred community in GENETICS IN MEDICINE
  • 2009-10-08. Finding the missing heritability of complex diseases in NATURE
  • 2010-04. Homozygosity mapping: One more tool in the clinical geneticist's toolbox in GENETICS IN MEDICINE
  • 2010-08. Risk of breast and prostate cancer is not associated with increased homozygosity in outbred populations in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2003-05. Finnish Disease Heritage I: in HUMAN GENETICS
  • 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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    415 https://www.grid.ac/institutes/grid.415310.2 schema:alternateName King Faisal Specialist Hospital & Research Centre
    416 schema:name Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia. falkuraya@kfshrc.edu.sa
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