FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4385778897> ?p ?o ?g. }

• W4385778897 abstract "Abstract Background Congenital Long QT Syndrome (LQTS) is a hereditary arrhythmic disorder. We aimed to assess the performance of current genetic variant annotation scores among LQTS patients and their predictive impact. Methods We evaluated 2025 patients with unique mutations for LQT1–LQT3. A patient‐specific score was calculated for each of four established genetic variant annotation algorithms: CADD, SIFT, REVEL, and PolyPhen‐2. The scores were tested for the identification of LQTS and their predictive performance for cardiac events (CE) and life‐threatening events (LTE) and then compared with the predictive performance of LQTS categorization based on mutation location/function. Score performance was tested using Harrell's C‐index. Results A total of 917 subjects were classified as LQT1, 838 as LQT2, and 270 as LQT3. The identification of a pathogenic variant occurred in 99% with CADD, 92% with SIFT, 100% with REVEL, and 86% with PolyPhen‐2. However, none of the genetic scores correlated with the risk of CE (Harrell's C‐index: CADD = 0.50, SIFT = 0.51, REVEL = 0.50, and PolyPhen‐2 = 0.52) or LTE (Harrell's C‐index: CADD = 0.50, SIFT = 0.53, REVEL = 0.54, and PolyPhen‐2 = 0.52). In contrast, high‐risk mutation categorization based on location/function was a powerful independent predictor of CE (HR = 1.88; p < .001) and LTE (HR = 1.89, p < .001). Conclusion In congenital LQTS patients, well‐established algorithms (CADD, SIFT, REVEL, and PolyPhen‐2) were able to identify the majority of the causal variants as pathogenic. However, the scores did not predict clinical outcomes. These results indicate that mutation location/functional assays are essential for accurate interpretation of the risk associated with LQTS mutations." @default.
• W4385778897 created "2023-08-13" @default.
• W4385778897 creator A5002121570 @default.
• W4385778897 creator A5004395330 @default.
• W4385778897 creator A5006294179 @default.
• W4385778897 creator A5007803409 @default.
• W4385778897 creator A5008613276 @default.
• W4385778897 creator A5022969172 @default.
• W4385778897 creator A5039533444 @default.
• W4385778897 creator A5042670765 @default.
• W4385778897 creator A5051837355 @default.
• W4385778897 creator A5059052503 @default.
• W4385778897 creator A5063716572 @default.
• W4385778897 creator A5077082770 @default.
• W4385778897 creator A5078194623 @default.
• W4385778897 date "2023-08-11" @default.
• W4385778897 modified "2023-10-01" @default.
• W4385778897 title "Genetic variant annotation scores in congenital long <scp>QT</scp> syndrome" @default.
• W4385778897 cites W1977927547 @default.
• W4385778897 cites W1980740976 @default.
• W4385778897 cites W1998002365 @default.
• W4385778897 cites W2027684356 @default.
• W4385778897 cites W2051237605 @default.
• W4385778897 cites W2059145105 @default.
• W4385778897 cites W2073264109 @default.
• W4385778897 cites W2081072082 @default.
• W4385778897 cites W2089744245 @default.
• W4385778897 cites W2099551120 @default.
• W4385778897 cites W2112470883 @default.
• W4385778897 cites W2114627293 @default.
• W4385778897 cites W2124865340 @default.
• W4385778897 cites W2129910735 @default.
• W4385778897 cites W2160137065 @default.
• W4385778897 cites W2164004777 @default.
• W4385778897 cites W2347169701 @default.
• W4385778897 cites W2511790442 @default.
• W4385778897 cites W2521967673 @default.
• W4385778897 cites W2803899956 @default.
• W4385778897 cites W2905452503 @default.
• W4385778897 cites W3043951483 @default.
• W4385778897 cites W3087878604 @default.
• W4385778897 cites W3092842084 @default.
• W4385778897 cites W4385778897 @default.
• W4385778897 doi "https://doi.org/10.1111/anec.13080" @default.
• W4385778897 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37571804" @default.
• W4385778897 hasPublicationYear "2023" @default.
• W4385778897 type Work @default.
• W4385778897 citedByCount "2" @default.
• W4385778897 countsByYear W43857788972023 @default.
• W4385778897 crossrefType "journal-article" @default.
• W4385778897 hasAuthorship W4385778897A5002121570 @default.
• W4385778897 hasAuthorship W4385778897A5004395330 @default.
• W4385778897 hasAuthorship W4385778897A5006294179 @default.
• W4385778897 hasAuthorship W4385778897A5007803409 @default.
• W4385778897 hasAuthorship W4385778897A5008613276 @default.
• W4385778897 hasAuthorship W4385778897A5022969172 @default.
• W4385778897 hasAuthorship W4385778897A5039533444 @default.
• W4385778897 hasAuthorship W4385778897A5042670765 @default.
• W4385778897 hasAuthorship W4385778897A5051837355 @default.
• W4385778897 hasAuthorship W4385778897A5059052503 @default.
• W4385778897 hasAuthorship W4385778897A5063716572 @default.
• W4385778897 hasAuthorship W4385778897A5077082770 @default.
• W4385778897 hasAuthorship W4385778897A5078194623 @default.
• W4385778897 hasBestOaLocation W43857788971 @default.
• W4385778897 hasConcept C118441451 @default.
• W4385778897 hasConcept C126322002 @default.
• W4385778897 hasConcept C2779703243 @default.
• W4385778897 hasConcept C54355233 @default.
• W4385778897 hasConcept C71924100 @default.
• W4385778897 hasConcept C86803240 @default.
• W4385778897 hasConceptScore W4385778897C118441451 @default.
• W4385778897 hasConceptScore W4385778897C126322002 @default.
• W4385778897 hasConceptScore W4385778897C2779703243 @default.
• W4385778897 hasConceptScore W4385778897C54355233 @default.
• W4385778897 hasConceptScore W4385778897C71924100 @default.
• W4385778897 hasConceptScore W4385778897C86803240 @default.
• W4385778897 hasIssue "5" @default.
• W4385778897 hasLocation W43857788971 @default.
• W4385778897 hasLocation W43857788972 @default.
• W4385778897 hasOpenAccess W4385778897 @default.
• W4385778897 hasPrimaryLocation W43857788971 @default.
• W4385778897 hasRelatedWork W2033888008 @default.
• W4385778897 hasRelatedWork W2062288119 @default.
• W4385778897 hasRelatedWork W2092950144 @default.
• W4385778897 hasRelatedWork W2133442649 @default.
• W4385778897 hasRelatedWork W2416382266 @default.
• W4385778897 hasRelatedWork W2601895312 @default.
• W4385778897 hasRelatedWork W3106754853 @default.
• W4385778897 hasRelatedWork W4237478000 @default.
• W4385778897 hasRelatedWork W4255707928 @default.
• W4385778897 hasRelatedWork W4286311481 @default.
• W4385778897 hasVolume "28" @default.
• W4385778897 isParatext "false" @default.
• W4385778897 isRetracted "false" @default.
• W4385778897 workType "article" @default.