Uncovering the roles of rare variants in common disease through whole-genome sequencing View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2010-06

AUTHORS

Elizabeth T. Cirulli, David B. Goldstein

ABSTRACT

Although genome-wide association (GWA) studies for common variants have thus far succeeded in explaining only a modest fraction of the genetic components of human common diseases, recent advances in next-generation sequencing technologies could rapidly facilitate substantial progress. This outcome is expected if much of the missing genetic control is due to gene variants that are too rare to be picked up by GWA studies and have relatively large effects on risk. Here, we evaluate the evidence for an important role of rare gene variants of major effect in common diseases and outline discovery strategies for their identification. More... »

PAGES

415

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    URI

    http://scigraph.springernature.com/pub.10.1038/nrg2779

    DOI

    http://dx.doi.org/10.1038/nrg2779

    DIMENSIONS

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    PUBMED

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