RT Journal Article
SR Electronic
T1 IW-Scoring: an Integrative Weighted Scoring framework for annotating and prioritizing genetic variations in the noncoding genome
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 163311
DO 10.1101/163311
A1 Jun Wang
A1 Dayem Ullah
A1 Claude Chelala
YR 2017
UL http://biorxiv.org/content/early/2017/07/15/163311.abstract
AB IW-Scoring represents a new Integrative Weighted Scoring model to annotate and prioritise functionally relevant noncoding variations. The pipeline integrates 11 popular algorithms and outperforms individual methods in three independent data sets, including variants in ClinVar database and GWAS studies, and cancer mutations. Using IW-Scoring, we located 11 recurrently mutated noncoding regions enriched for at least three functional mutations in 14 follicular lymphoma genomes, and validated 9 clusters (82%) in the International Cancer Genome Consortium cohort (n=36), including promoter and enhancer regions of PAX5. IW-Scoring offers greater versatility to identify trait and disease associated noncoding variants.IW-ScoringIntegrative Weighted ScoringROCaverage receiver operating characteristic curvesAUCArea under the ROC curvebpbase pairENCODEThe Encyclopedia of DNA ElementsFANTOM5functional annotation of the mammalian genomeGWASgenome-wide association studyTCGAThe Cancer Genome AtlasICGCInternational Cancer Genome ConsortiumWGSwhole genome sequencingeQTLexpression quantitative trait locusUTRuntranslated regionSNVsingle nucleotide variantSNPsingle nucleotide polymorphismCOSMICcatalogue of somatic mutations in cancerFLfollicular lymphomaaSHMaberrant somatic hypermutations