publication . Preprint . 2016

Enhancing power of rare variant association test by Zoom-Focus Algorithm (ZFA) to locate optimal testing region

Wang, Maggie Haitian; Weng, Haoyi; Sun, Rui; Zee, Benny Chung-Ying;
Open Access English
  • Published: 28 Jun 2016
Abstract
Motivation: Exome or targeted sequencing data exerts analytical challenge to test single nucleotide polymorphisms (SNPs) with extremely small minor allele frequency (MAF). Various rare variant tests were proposed to increase power by aggregating SNPs within a fixed genomic region, such as a gene or pathway. However, a gene could contain from several to thousands of markers, and not all of them may be related to the phenotype. Combining functional and non-functional SNPs in arbitrary genomic region could impair the testing power. Results: We propose a Zoom-Focus algorithm (ZFA) to locate the optimal testing region within a given genomic region, as a wrapper funct...
Subjects
free text keywords: Quantitative Biology - Genomics
Funded by
NIH| Genetic Analysis of Common Diseases: An Evaluation
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5R01GM031575-22
  • Funding stream: NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES
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