Show simple item record

A biologically informed method for detecting associations with rare variants

dc.creatorMoore, Carrie Colleen Buchanan
dc.description.abstractMany recent studies have identified rare variants that contribute to common, complex disease. It is believed that rare variants likely have a larger effect size (compared to GWAS findings) and can act alone, in concert with other rare variants, or together with common variants. Multiple rare variants can potentially account for a portion of missing heritability in a given trait; therefore, binning or burden testing, may better account for genetic heterogeneity. BioBin, an innovative collapsing method developed in the Ritchie lab, utilizes a flexible repository of data assembled from multiple public databases. The novelty of BioBin lies in access to comprehensive knowledge-guided multi-level binning. BioBin can apply multiple levels of burden testing, including: functional regions, evolutionary conserved regions, genes, and/or pathways. BioBin does not include a specific statistical association test, since the application of statistical testing is dependent on data type and analysis in question. Therefore, the user has the flexibility to apply tests appropriately without constraint. BioBin has been tested in the context of extensive simulation studies, compared with multiple published statistical methods, and applied to the NHLBI GO Exome Sequencing Project for Cystic Fibrosis. BioBin is a very useful and flexible tool to analyze sequence data and can uncover novel associations with complex disease.
dc.subjectcollapsing methods
dc.subject1000 Genomes Project data
dc.subjectnext-generation sequencing
dc.subjectrare variants
dc.titleA biologically informed method for detecting associations with rare variants
dc.contributor.committeeMemberTricia Thornton-Wells
dc.contributor.committeeMemberDan Roden
dc.contributor.committeeMemberWilliam Bush
dc.contributor.committeeMemberMarylyn Ritchie
dc.type.materialtext Genetics University
dc.contributor.committeeChairBingshan Li

Files in this item


This item appears in the following Collection(s)

Show simple item record