Article

Identifying individual risk rare variants using protein structure-guided local tests (POINT)

2018-05-29

Abstract excerpt

Rare variants are of increasing interest to genetic association studies because of their etiological contributions to human complex diseases. Due to the rarity of the mutant events, rare variants are routinely analyzed on an aggregate level. While aggregation analyses improve the detection of global-level signal, they are not able to pinpoint causal variants within a variant set. To perform inference on a localize...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: fd52cb63-19df-52a6-a415-ba93d9628627
DOI: 10.1101/333245

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Identifying individual risk rare variants using protein structure-guided local tests (POINT)DOI 10.1101/333245Read

Beyond Rare-Variant Association Testing: Pinpointing Rare Causal Variants in Case-Control Sequencing Study.Semantic proximity Read

An Association Test of the Spatial Distribution of Rare Missense Variants within Protein Structures Improves Statistical Power of Sequencing StudiesSemantic proximity Read

Identification of genetic biomarkers of blood cholesterol levels using whole gene pathogenicity modelling.Semantic proximity Read

DoEstRare: A statistical test to identify local enrichments in rare genomic variants associated with disease.Semantic proximity Read

Prioritizing disease-related rare variants by integrating gene expression dataSemantic proximity Read

Exautomate: A user-friendly tool for region-based rare variant association analysis (RVAA)Semantic proximity Read

Identification of Influential Variants in Significant Aggregate Rare Variant TestsSemantic proximity Read

Complementary roles of structure and variant effect predictors in RyR1 clinical interpretationSemantic proximity Read

Rare-variant association testing for sequencing data with the sequence kernel association test.Semantic proximity Read

RAPIDSNPs: A new computational pipeline for rapidly identifying key genetic variants reveals previously unidentified SNPs that are significantly associated with individual platelet responses.Semantic proximity Read

CLUSTERING OF RARE VARIANTS FOR CAUSAL VARIANTS IDENTIFICATION AND EFFECT DIRECTION CLASSIFICATIONSemantic proximity Read

PSCAN: Spatial scan tests guided by protein structures improve complex disease gene discovery and signal variant detection.Semantic proximity Read