Copy-number variation and association studies of human disease View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2007-07

AUTHORS

Steven A McCarroll, David M Altshuler

ABSTRACT

The central goal of human genetics is to understand the inherited basis of human variation in phenotypes, elucidating human physiology, evolution and disease. Rare mutations have been found underlying two thousand mendelian diseases; more recently, it has become possible to assess systematically the contribution of common SNPs to complex disease. The known role of copy-number alterations in sporadic genomic disorders, combined with emerging information about inherited copy-number variation, indicate the importance of systematically assessing copy-number variants (CNVs), including common copy-number polymorphisms (CNPs), in disease. Here we discuss evidence that CNVs affect phenotypes, directions for basic knowledge to support clinical study of CNVs, the challenge of genotyping CNPs in clinical cohorts, the use of SNPs as markers for CNPs and statistical challenges in testing CNVs for association with disease. Critical needs are high-resolution maps of common CNPs and techniques that accurately determine the allelic state of affected individuals. More... »

PAGES

s37

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng2080

    DOI

    http://dx.doi.org/10.1038/ng2080

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1025292804

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/17597780


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