FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2958049408> ?p ?o ?g. }

• W2958049408 endingPage "570" @default.
• W2958049408 startingPage "560" @default.
• W2958049408 abstract "Pathogenic variants in the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) are responsible for cystic fibrosis (CF), the commonest monogenic autosomal recessive disease, and CFTR-related disorders in infants and youth. Diagnosis of such diseases relies on clinical, functional, and molecular studies. To date, over 2,000 variants have been described on CFTR (~40% missense). Since few of them have confirmed pathogenicity, in silico analysis could help molecular diagnosis and genetic counseling. Here, the pathogenicity of 779 CFTR missense variants was predicted by consensus predictor PredictSNP and compared to annotations on CFTR2 and ClinVar. Sensitivity and specificity analysis was divided into modeling and validation phases using just variants annotated on CFTR2 and/or ClinVar that were not in the validation datasets of the analyzed predictors. After validation phase, MAPP and PhDSNP achieved maximum specificity but low sensitivity. Otherwise, SNAP had maximum sensitivity but null specificity. PredictSNP, PolyPhen-1, PolyPhen-2, SIFT, nsSNPAnalyzer had either low sensitivity or specificity, or both. Results showed that most predictors were not reliable when analyzing CFTR missense variants, ratifying the importance of clinical information when asserting the pathogenicity of CFTR missense variants. Our results should contribute to clarify decision making when classifying the pathogenicity of CFTR missense variants." @default.
• W2958049408 created "2019-07-23" @default.
• W2958049408 creator A5027334022 @default.
• W2958049408 creator A5031469188 @default.
• W2958049408 creator A5045456030 @default.
• W2958049408 creator A5046331416 @default.
• W2958049408 creator A5048997279 @default.
• W2958049408 creator A5066169627 @default.
• W2958049408 creator A5066200129 @default.
• W2958049408 creator A5067182883 @default.
• W2958049408 date "2019-09-01" @default.
• W2958049408 modified "2023-10-10" @default.
• W2958049408 title "Determining the pathogenicity of CFTR missense variants: Multiple comparisons of in silico predictors and variant annotation databases" @default.
• W2958049408 cites W1969697265 @default.
• W2958049408 cites W1984576497 @default.
• W2958049408 cites W1987134040 @default.
• W2958049408 cites W2037312364 @default.
• W2958049408 cites W2039599894 @default.
• W2958049408 cites W2039878336 @default.
• W2958049408 cites W2049914201 @default.
• W2958049408 cites W2051978340 @default.
• W2958049408 cites W2058530636 @default.
• W2958049408 cites W2059145105 @default.
• W2958049408 cites W2062210814 @default.
• W2958049408 cites W2063714349 @default.
• W2958049408 cites W2069197202 @default.
• W2958049408 cites W2080039356 @default.
• W2958049408 cites W2082968284 @default.
• W2958049408 cites W2083022629 @default.
• W2958049408 cites W2086293424 @default.
• W2958049408 cites W2089335658 @default.
• W2958049408 cites W2093097787 @default.
• W2958049408 cites W2098425296 @default.
• W2958049408 cites W2098740506 @default.
• W2958049408 cites W2099564671 @default.
• W2958049408 cites W2099589970 @default.
• W2958049408 cites W2109372707 @default.
• W2958049408 cites W2130479394 @default.
• W2958049408 cites W2133657429 @default.
• W2958049408 cites W2143238378 @default.
• W2958049408 cites W2152575748 @default.
• W2958049408 cites W2155201844 @default.
• W2958049408 cites W2163721943 @default.
• W2958049408 cites W2166958946 @default.
• W2958049408 cites W2174797272 @default.
• W2958049408 cites W2224056471 @default.
• W2958049408 cites W2403357649 @default.
• W2958049408 cites W2521967673 @default.
• W2958049408 cites W2582657518 @default.
• W2958049408 cites W2602180809 @default.
• W2958049408 cites W2770026599 @default.
• W2958049408 cites W4210702584 @default.
• W2958049408 doi "https://doi.org/10.1590/1678-4685-gmb-2018-0148" @default.
• W2958049408 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6905453" @default.
• W2958049408 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31808782" @default.
• W2958049408 hasPublicationYear "2019" @default.
• W2958049408 type Work @default.
• W2958049408 sameAs 2958049408 @default.
• W2958049408 citedByCount "4" @default.
• W2958049408 countsByYear W29580494082020 @default.
• W2958049408 countsByYear W29580494082022 @default.
• W2958049408 countsByYear W29580494082023 @default.
• W2958049408 crossrefType "journal-article" @default.
• W2958049408 hasAuthorship W2958049408A5027334022 @default.
• W2958049408 hasAuthorship W2958049408A5031469188 @default.
• W2958049408 hasAuthorship W2958049408A5045456030 @default.
• W2958049408 hasAuthorship W2958049408A5046331416 @default.
• W2958049408 hasAuthorship W2958049408A5048997279 @default.
• W2958049408 hasAuthorship W2958049408A5066169627 @default.
• W2958049408 hasAuthorship W2958049408A5066200129 @default.
• W2958049408 hasAuthorship W2958049408A5067182883 @default.
• W2958049408 hasBestOaLocation W29580494081 @default.
• W2958049408 hasConcept C104317684 @default.
• W2958049408 hasConcept C2775905019 @default.
• W2958049408 hasConcept C2776938444 @default.
• W2958049408 hasConcept C2778428886 @default.
• W2958049408 hasConcept C501734568 @default.
• W2958049408 hasConcept C54355233 @default.
• W2958049408 hasConcept C64502627 @default.
• W2958049408 hasConcept C70721500 @default.
• W2958049408 hasConcept C75563809 @default.
• W2958049408 hasConcept C86803240 @default.
• W2958049408 hasConcept C89423630 @default.
• W2958049408 hasConceptScore W2958049408C104317684 @default.
• W2958049408 hasConceptScore W2958049408C2775905019 @default.
• W2958049408 hasConceptScore W2958049408C2776938444 @default.
• W2958049408 hasConceptScore W2958049408C2778428886 @default.
• W2958049408 hasConceptScore W2958049408C501734568 @default.
• W2958049408 hasConceptScore W2958049408C54355233 @default.
• W2958049408 hasConceptScore W2958049408C64502627 @default.
• W2958049408 hasConceptScore W2958049408C70721500 @default.
• W2958049408 hasConceptScore W2958049408C75563809 @default.
• W2958049408 hasConceptScore W2958049408C86803240 @default.
• W2958049408 hasConceptScore W2958049408C89423630 @default.
• W2958049408 hasIssue "3" @default.
• W2958049408 hasLocation W29580494081 @default.
• W2958049408 hasLocation W29580494082 @default.
• W2958049408 hasLocation W29580494083 @default.

• next