Article

A framework for detecting noncoding rare variant associations of large-scale whole-genome sequencing studies

2021-11-08

Abstract excerpt

Large-scale whole-genome sequencing studies have enabled analysis of noncoding rare variants’ (RVs) associations with complex human traits. Variant set analysis is a powerful approach to study RV association, and a key component of it is constructing RV sets for analysis. However, existing methods have limited ability to define analysis units in the noncoding genome. Furthermore, there is a lack of robust pipeline...

Topics

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

Identifiers and source

Literature Corpus work: 1f943dbe-2710-5dbe-a2a8-934471359df1
DOI: 10.1101/2021.11.05.467531

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A framework for detecting noncoding rare variant associations of large-scale whole-genome sequencing studiesDOI 10.1101/2021.11.05.467531Read

A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies.Semantic proximity Read

A statistical framework for powerful multi-trait rare variant analysis in large-scale whole-genome sequencing studiesSemantic proximity Read

A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies.Semantic proximity Read

Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale.Semantic proximity Read

Rare coding and noncoding variants map 1,342 diseases and biomarkers in 490,549 whole genomesSemantic proximity Read

Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study.Semantic proximity Read

Dynamic Scan Procedure for Detecting Rare-Variant Association Regions in Whole Genome Sequencing StudiesSemantic proximity Read

Whole genome sequence analysis of low-density lipoprotein cholesterol across 246 K individuals.Semantic proximity Read

Systematic common and rare variant association testing in 392,030 whole genomes in <i>All of Us</i>Semantic proximity Read

Functional annotation of noncoding sequence variants.Semantic proximity Read

Exploring noncoding variants in genetic diseases: from detection to functional insights.Semantic proximity Read

Prioritization and functional assessment of noncoding variants associated with complex diseases.Semantic proximity Read