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Article

Phenotypic extremes in rare variant study designs.

European journal of human genetics : EJHG - 1 Jun 2016

Peloso Gina M, Rader Daniel J, Gabriel Stacey, Kathiresan Sekar, Daly Mark J, Neale Benjamin M

Abstract excerpt

Currently, next-generation sequencing studies aim to identify rare and low-frequency variation that may contribute to disease. For a given effect size, as the allele frequency decreases, the power to detect genes or variants of interest also decreases. Although many methods have been proposed for the analysis of such data, study design and analytic issues still persist in data interpretation. In this study we...

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PMID: 26350511
DOI: 10.1038/ejhg.2015.197
PMCID: PMC4867440

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ABCA1

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