FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4210928365> ?p ?o ?g. }

• W4210928365 endingPage "383" @default.
• W4210928365 startingPage "378" @default.
• W4210928365 abstract "Next-generation sequencing (NGS) is used increasingly in hereditary cancer patients' (HCP) management. While enabling evaluation of multiple genes simultaneously, the technology brings to light the dilemma of variant interpretation. Here, we aimed to reveal the underlying reasons for the discrepancy in the evidence titles used during variant classification according to ACMG guidelines by two different bioinformatic specialists (BIs) and two different clinical geneticists (CGs). We evaluated final reports of 1920 cancer patients and 189 different variants from 285 HCP were enrolled to the study. A total of 173 of these variants were classified as pathogenic (n = 132) and likely pathogenic (n = 41) by the BI and an additional 16 variants, that were classified as VUS by at least one interpreter and their classification would change the clinical management, were compared for their evidence titles between different specialists. The attributed evidence titles and the final classification of the variants among BIs and CGs were compared. The discrepancy between P/LP final reports was 22.5%. The discordance between CGs was 30% whereas the discordance between two BIs was almost 75%. The use of PVS1, PS3, PP3, PP5, PM1, PM2, BP1, BP4 criteria markedly varied from one expert to another. This difference was particularly noticeable in PP3, PP5, and PM1 evidence and mostly in the variants affecting splice sites like BRCA1(NM_007294.4) c.4096 + 1 G > A and CHEK2(NM_007194.4) c.592 + 3 A > T. With recent advancements in precision medicine, the importance of variant interpretations is emerging. Our study shows that variant interpretation is subjective process that is in need of concrete definitions for accurate and standard interpretation." @default.
• W4210928365 created "2022-02-09" @default.
• W4210928365 creator A5011355514 @default.
• W4210928365 creator A5018334806 @default.
• W4210928365 creator A5024361146 @default.
• W4210928365 creator A5032776135 @default.
• W4210928365 creator A5052879004 @default.
• W4210928365 creator A5057673303 @default.
• W4210928365 creator A5069666764 @default.
• W4210928365 creator A5075593338 @default.
• W4210928365 date "2022-02-08" @default.
• W4210928365 modified "2023-10-11" @default.
• W4210928365 title "Consistency of variant interpretations among bioinformaticians and clinical geneticists in hereditary cancer panels" @default.
• W4210928365 cites W1540427327 @default.
• W4210928365 cites W1823058240 @default.
• W4210928365 cites W1970413157 @default.
• W4210928365 cites W1975196485 @default.
• W4210928365 cites W2050061987 @default.
• W4210928365 cites W2051978340 @default.
• W4210928365 cites W2059145105 @default.
• W4210928365 cites W2062056791 @default.
• W4210928365 cites W2127905124 @default.
• W4210928365 cites W2132103088 @default.
• W4210928365 cites W2132123037 @default.
• W4210928365 cites W2144031018 @default.
• W4210928365 cites W2160995259 @default.
• W4210928365 cites W2195303995 @default.
• W4210928365 cites W2256016639 @default.
• W4210928365 cites W2346043562 @default.
• W4210928365 cites W2356454710 @default.
• W4210928365 cites W2491936132 @default.
• W4210928365 cites W2518728331 @default.
• W4210928365 cites W2566723262 @default.
• W4210928365 cites W2595455619 @default.
• W4210928365 cites W2611592008 @default.
• W4210928365 cites W2797024694 @default.
• W4210928365 cites W2903730235 @default.
• W4210928365 cites W2914434274 @default.
• W4210928365 cites W2952728907 @default.
• W4210928365 cites W3005785247 @default.
• W4210928365 cites W3010674213 @default.
• W4210928365 cites W3025418597 @default.
• W4210928365 cites W3033775426 @default.
• W4210928365 cites W3043621822 @default.
• W4210928365 cites W3118983547 @default.
• W4210928365 doi "https://doi.org/10.1038/s41431-022-01060-7" @default.
• W4210928365 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35132179" @default.
• W4210928365 hasPublicationYear "2022" @default.
• W4210928365 type Work @default.
• W4210928365 citedByCount "2" @default.
• W4210928365 countsByYear W42109283652022 @default.
• W4210928365 countsByYear W42109283652023 @default.
• W4210928365 crossrefType "journal-article" @default.
• W4210928365 hasAuthorship W4210928365A5011355514 @default.
• W4210928365 hasAuthorship W4210928365A5018334806 @default.
• W4210928365 hasAuthorship W4210928365A5024361146 @default.
• W4210928365 hasAuthorship W4210928365A5032776135 @default.
• W4210928365 hasAuthorship W4210928365A5052879004 @default.
• W4210928365 hasAuthorship W4210928365A5057673303 @default.
• W4210928365 hasAuthorship W4210928365A5069666764 @default.
• W4210928365 hasAuthorship W4210928365A5075593338 @default.
• W4210928365 hasBestOaLocation W42109283651 @default.
• W4210928365 hasConcept C104317684 @default.
• W4210928365 hasConcept C121608353 @default.
• W4210928365 hasConcept C13514818 @default.
• W4210928365 hasConcept C154945302 @default.
• W4210928365 hasConcept C163763905 @default.
• W4210928365 hasConcept C2776071976 @default.
• W4210928365 hasConcept C2776436953 @default.
• W4210928365 hasConcept C2993935542 @default.
• W4210928365 hasConcept C41008148 @default.
• W4210928365 hasConcept C501734568 @default.
• W4210928365 hasConcept C54355233 @default.
• W4210928365 hasConcept C64474127 @default.
• W4210928365 hasConcept C71924100 @default.
• W4210928365 hasConcept C86803240 @default.
• W4210928365 hasConceptScore W4210928365C104317684 @default.
• W4210928365 hasConceptScore W4210928365C121608353 @default.
• W4210928365 hasConceptScore W4210928365C13514818 @default.
• W4210928365 hasConceptScore W4210928365C154945302 @default.
• W4210928365 hasConceptScore W4210928365C163763905 @default.
• W4210928365 hasConceptScore W4210928365C2776071976 @default.
• W4210928365 hasConceptScore W4210928365C2776436953 @default.
• W4210928365 hasConceptScore W4210928365C2993935542 @default.
• W4210928365 hasConceptScore W4210928365C41008148 @default.
• W4210928365 hasConceptScore W4210928365C501734568 @default.
• W4210928365 hasConceptScore W4210928365C54355233 @default.
• W4210928365 hasConceptScore W4210928365C64474127 @default.
• W4210928365 hasConceptScore W4210928365C71924100 @default.
• W4210928365 hasConceptScore W4210928365C86803240 @default.
• W4210928365 hasFunder F4320325521 @default.
• W4210928365 hasIssue "3" @default.
• W4210928365 hasLocation W42109283651 @default.
• W4210928365 hasLocation W42109283652 @default.
• W4210928365 hasLocation W42109283653 @default.
• W4210928365 hasOpenAccess W4210928365 @default.
• W4210928365 hasPrimaryLocation W42109283651 @default.
• W4210928365 hasRelatedWork W1991523530 @default.

• next