publication . Other literature type . Article . 2010

Statistical analysis strategies for association studies involving rare variants.

Bansal, Vikas; Libiger, Ondrej; Torkamani, Ali; Schork, Nicholas J.;
Open Access English
  • Published: 13 Oct 2010
Abstract
The limitations of genome-wide association (GWA) studies that focus on the phenotypic influence of common genetic variants have motivated human geneticists to consider the contribution of rare variants to phenotypic expression. The increasing availability of high-throughput sequencing technologies has enabled studies of rare variants but these methods will not be sufficient for their success as appropriate analytical methods are also needed. We consider data analysis approaches to testing associations between a phenotype and collections of rare variants in a defined genomic region or set of regions. Ultimately, although a wide variety of analytical approaches ex...
Subjects
free text keywords: Article, Biology, Bioinformatics, Statistical analysis, Genome-wide association study, Genetic association, Genetic variants, Clinical study design, Genetics, Allele frequency
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