Article

Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score

2021-11-04

Abstract excerpt

Rare variant association tests (RVAT) have been developed to study the contribution of rare variants widely accessible through high-throughput sequencing technologies. RVAT require to aggregate rare variants in testing units and to filter variants to retain only the most likely causal ones. In the exome, genes are natural testing units and variants are usually filtered based on their functional consequences. Howev...

Topics

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

Identifiers and source

Literature Corpus work: 69db2d5f-f8f7-58c6-b2f9-e4c6b89903f4
DOI: 10.1101/2021.11.04.467235

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness scoreDOI 10.1101/2021.11.04.467235Read

Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score.Semantic proximity Read

Harnessing the 100,000 Genomes Project whole genome sequencing data - an unbiased systematic tool to filter by biologically validated regions of functionalitySemantic proximity Read

Rare coding variant architecture and gene discovery from 130,000 sequenced cases of atrial fibrillationSemantic proximity Read

The Regulatory Mendelian Mutation score for GRCh38Semantic proximity Read

PSAP-genomic-regions: a method leveraging population data to prioritize coding and non-coding variants in whole genome sequencing for rare disease diagnosisSemantic proximity Read

Using genotyping and whole-exome sequencing data to improve genetic risk prediction in deep venous thrombosisSemantic proximity Read

An Effective Gene-Based Rare Variant Association Analysis Pipeline for Case-Control Studies of DiseaseSemantic proximity Read

RAVAR: a curated repository for rare variant-trait associations.Semantic proximity Read

FunSPU: A versatile and adaptive multiple functional annotation-based association test of whole-genome sequencing dataSemantic proximity Read

Functional filter for whole genome sequence data identifies stress impact, non-coding alternate polyadenylation site variants >5kb from coding DNASemantic proximity Read

Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes.Semantic proximity Read

A phenotype driven integrative framework uncovers molecular mechanisms of a rare hereditary thrombophilia.Semantic proximity Read