publication . Article . Other literature type . 2008

Methods for Detecting Associations with Rare Variants for Common Diseases : Application to Analysis of Sequence Data

Li, Bingshan; Leal, Suzanne M.;
Open Access
  • Published: 01 Sep 2008 Journal: The American Journal of Human Genetics, volume 83, pages 311-321 (issn: 0002-9297, Copyright policy)
  • Publisher: Elsevier BV
Abstract
Although whole-genome association studies using tagSNPs are a powerful approach for detecting common variants, they are underpowered for detecting associations with rare variants. Recent studies have demonstrated that common diseases can be due to functional variants with a wide spectrum of allele frequencies, ranging from rare to common. An effective way to identify rare variants is through direct sequencing. The development of cost-effective sequencing technologies enables association studies to use sequence data from candidate genes and, in the future, from the entire genome. Although methods used for analysis of common variants are applicable to sequence dat...
Subjects
free text keywords: Genetics(clinical), Genetics, Article
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