Matches in SemOpenAlex for { <https://semopenalex.org/work/W2997196908> ?p ?o ?g. }
Showing items 1 to 83 of
83
with 100 items per page.
- W2997196908 endingPage "542" @default.
- W2997196908 startingPage "537" @default.
- W2997196908 abstract "The American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines for variant classification are widely used for clinical interpretation of gene test results. These guidelines may be specified to genes/syndromes of interest to improve their utility in the clinical setting. As part of these specifications, phenotype-related criteria can be detailed and weighted depending on the personal history of disease for a given variant carrier. We investigated how ascertainment can affect the significance and/or weight of patient phenotype as a predictor of germline-variant pathogenicity, using the Li-Fraumeni Syndrome gene TP53 as an example. Likelihood ratios in favor of variant pathogenicity were determined for a report of the personal history of several TP53-related cancers, using data from 2,656 probands undergoing single-gene testing (SGT) and 15,483 undergoing multi-gene panel testing (MGPT). Overall, TP53-associated cancers were more predictive of pathogenicity, and demonstrated greater evidence weight, in the MGPT versus SGT dataset. This observation is almost certainly explained by differences in proband ascertainment for the two streams of testing, and these findings have implications for germline-variant classification using ACMG/AMP guidelines." @default.
- W2997196908 created "2020-01-10" @default.
- W2997196908 creator A5010264145 @default.
- W2997196908 creator A5010709642 @default.
- W2997196908 creator A5014995528 @default.
- W2997196908 creator A5033993676 @default.
- W2997196908 creator A5039564943 @default.
- W2997196908 creator A5040415039 @default.
- W2997196908 creator A5048433944 @default.
- W2997196908 creator A5054360713 @default.
- W2997196908 date "2020-01-16" @default.
- W2997196908 modified "2023-10-16" @default.
- W2997196908 title "Differences in patient ascertainment affect the use of gene‐specified ACMG/AMP phenotype‐related variant classification criteria: Evidence for TP53" @default.
- W2997196908 cites W2027605814 @default.
- W2997196908 cites W2051978340 @default.
- W2997196908 cites W2095770043 @default.
- W2997196908 cites W2579423964 @default.
- W2997196908 cites W2781534540 @default.
- W2997196908 cites W2782210658 @default.
- W2997196908 cites W2789467029 @default.
- W2997196908 cites W2792514620 @default.
- W2997196908 cites W2896219621 @default.
- W2997196908 cites W2896403068 @default.
- W2997196908 cites W2897315653 @default.
- W2997196908 cites W2952683165 @default.
- W2997196908 doi "https://doi.org/10.1002/humu.23972" @default.
- W2997196908 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31898864" @default.
- W2997196908 hasPublicationYear "2020" @default.
- W2997196908 type Work @default.
- W2997196908 sameAs 2997196908 @default.
- W2997196908 citedByCount "4" @default.
- W2997196908 countsByYear W29971969082020 @default.
- W2997196908 countsByYear W29971969082021 @default.
- W2997196908 countsByYear W29971969082023 @default.
- W2997196908 crossrefType "journal-article" @default.
- W2997196908 hasAuthorship W2997196908A5010264145 @default.
- W2997196908 hasAuthorship W2997196908A5010709642 @default.
- W2997196908 hasAuthorship W2997196908A5014995528 @default.
- W2997196908 hasAuthorship W2997196908A5033993676 @default.
- W2997196908 hasAuthorship W2997196908A5039564943 @default.
- W2997196908 hasAuthorship W2997196908A5040415039 @default.
- W2997196908 hasAuthorship W2997196908A5048433944 @default.
- W2997196908 hasAuthorship W2997196908A5054360713 @default.
- W2997196908 hasBestOaLocation W29971969081 @default.
- W2997196908 hasConcept C104317684 @default.
- W2997196908 hasConcept C127716648 @default.
- W2997196908 hasConcept C15744967 @default.
- W2997196908 hasConcept C2776035688 @default.
- W2997196908 hasConcept C46312422 @default.
- W2997196908 hasConcept C54355233 @default.
- W2997196908 hasConcept C60644358 @default.
- W2997196908 hasConcept C86803240 @default.
- W2997196908 hasConceptScore W2997196908C104317684 @default.
- W2997196908 hasConceptScore W2997196908C127716648 @default.
- W2997196908 hasConceptScore W2997196908C15744967 @default.
- W2997196908 hasConceptScore W2997196908C2776035688 @default.
- W2997196908 hasConceptScore W2997196908C46312422 @default.
- W2997196908 hasConceptScore W2997196908C54355233 @default.
- W2997196908 hasConceptScore W2997196908C60644358 @default.
- W2997196908 hasConceptScore W2997196908C86803240 @default.
- W2997196908 hasFunder F4320334705 @default.
- W2997196908 hasIssue "3" @default.
- W2997196908 hasLocation W29971969081 @default.
- W2997196908 hasLocation W29971969082 @default.
- W2997196908 hasOpenAccess W2997196908 @default.
- W2997196908 hasPrimaryLocation W29971969081 @default.
- W2997196908 hasRelatedWork W138964897 @default.
- W2997196908 hasRelatedWork W1530402712 @default.
- W2997196908 hasRelatedWork W1946787458 @default.
- W2997196908 hasRelatedWork W2104622833 @default.
- W2997196908 hasRelatedWork W2132993604 @default.
- W2997196908 hasRelatedWork W2143066563 @default.
- W2997196908 hasRelatedWork W2157166663 @default.
- W2997196908 hasRelatedWork W2276789630 @default.
- W2997196908 hasRelatedWork W2602253155 @default.
- W2997196908 hasRelatedWork W3179054707 @default.
- W2997196908 hasVolume "41" @default.
- W2997196908 isParatext "false" @default.
- W2997196908 isRetracted "false" @default.
- W2997196908 magId "2997196908" @default.
- W2997196908 workType "article" @default.