Matches in SemOpenAlex for { <https://semopenalex.org/work/W3198465468> ?p ?o ?g. }
- W3198465468 abstract "Risk evaluation to identify individuals who are at greater risk of cancer as a result of heritable pathogenic variants is a valuable component of individualized clinical management. Using principles of Mendelian genetics, Bayesian probability theory, and variant-specific knowledge, Mendelian models derive the probability of carrying a pathogenic variant and developing cancer in the future, based on family history. Existing Mendelian models are widely employed, but are generally limited to specific genes and syndromes. However, the upsurge of multi-gene panel germline testing has spurred the discovery of many new gene-cancer associations that are not presently accounted for in these models. We have developed PanelPRO, a flexible, efficient Mendelian risk prediction framework that can incorporate an arbitrary number of genes and cancers, overcoming the computational challenges that arise because of the increased model complexity. We implement an eleven-gene, eleven-cancer model, the largest Mendelian model created thus far, based on this framework. Using simulations and a clinical cohort with germline panel testing data, we evaluate model performance, validate the reverse-compatibility of our approach with existing Mendelian models, and illustrate its usage. Our implementation is freely available for research use in the PanelPRO R package." @default.
- W3198465468 created "2021-09-13" @default.
- W3198465468 creator A5046755933 @default.
- W3198465468 creator A5048337523 @default.
- W3198465468 creator A5050977500 @default.
- W3198465468 creator A5070083610 @default.
- W3198465468 creator A5070703103 @default.
- W3198465468 creator A5076661060 @default.
- W3198465468 date "2021-08-27" @default.
- W3198465468 modified "2023-09-26" @default.
- W3198465468 title "PanelPRO: a general framework for multi-gene, multi-cancer Mendelian risk prediction models" @default.
- W3198465468 cites W118958925 @default.
- W3198465468 cites W1977768811 @default.
- W3198465468 cites W1980125751 @default.
- W3198465468 cites W1980540383 @default.
- W3198465468 cites W1981337625 @default.
- W3198465468 cites W1988656726 @default.
- W3198465468 cites W1991311566 @default.
- W3198465468 cites W1998158007 @default.
- W3198465468 cites W2005351661 @default.
- W3198465468 cites W2029480171 @default.
- W3198465468 cites W2032346580 @default.
- W3198465468 cites W2036676133 @default.
- W3198465468 cites W2041221096 @default.
- W3198465468 cites W2041566574 @default.
- W3198465468 cites W2057969219 @default.
- W3198465468 cites W2066833606 @default.
- W3198465468 cites W2071194784 @default.
- W3198465468 cites W2080144551 @default.
- W3198465468 cites W2086840280 @default.
- W3198465468 cites W2096916467 @default.
- W3198465468 cites W2097096041 @default.
- W3198465468 cites W2098433299 @default.
- W3198465468 cites W2105160674 @default.
- W3198465468 cites W2105521816 @default.
- W3198465468 cites W2111898090 @default.
- W3198465468 cites W2117298495 @default.
- W3198465468 cites W2119910794 @default.
- W3198465468 cites W2127022187 @default.
- W3198465468 cites W2133349592 @default.
- W3198465468 cites W2137603964 @default.
- W3198465468 cites W2142491513 @default.
- W3198465468 cites W2143730928 @default.
- W3198465468 cites W2144714748 @default.
- W3198465468 cites W2147047601 @default.
- W3198465468 cites W2147406390 @default.
- W3198465468 cites W2151382914 @default.
- W3198465468 cites W2162602227 @default.
- W3198465468 cites W2165664908 @default.
- W3198465468 cites W2172049434 @default.
- W3198465468 cites W2194014097 @default.
- W3198465468 cites W2323655901 @default.
- W3198465468 cites W2336112201 @default.
- W3198465468 cites W2343071987 @default.
- W3198465468 cites W2400927555 @default.
- W3198465468 cites W2759242023 @default.
- W3198465468 cites W2792932280 @default.
- W3198465468 cites W2810194732 @default.
- W3198465468 cites W2886760468 @default.
- W3198465468 cites W2909714593 @default.
- W3198465468 cites W2931172509 @default.
- W3198465468 cites W2947989913 @default.
- W3198465468 cites W3018737314 @default.
- W3198465468 cites W3018842347 @default.
- W3198465468 cites W3195952834 @default.
- W3198465468 cites W53881160 @default.
- W3198465468 cites W2527734020 @default.
- W3198465468 hasPublicationYear "2021" @default.
- W3198465468 type Work @default.
- W3198465468 sameAs 3198465468 @default.
- W3198465468 citedByCount "0" @default.
- W3198465468 crossrefType "posted-content" @default.
- W3198465468 hasAuthorship W3198465468A5046755933 @default.
- W3198465468 hasAuthorship W3198465468A5048337523 @default.
- W3198465468 hasAuthorship W3198465468A5050977500 @default.
- W3198465468 hasAuthorship W3198465468A5070083610 @default.
- W3198465468 hasAuthorship W3198465468A5070703103 @default.
- W3198465468 hasAuthorship W3198465468A5076661060 @default.
- W3198465468 hasConcept C104317684 @default.
- W3198465468 hasConcept C107673813 @default.
- W3198465468 hasConcept C154945302 @default.
- W3198465468 hasConcept C175783326 @default.
- W3198465468 hasConcept C41008148 @default.
- W3198465468 hasConcept C54355233 @default.
- W3198465468 hasConcept C70721500 @default.
- W3198465468 hasConcept C86803240 @default.
- W3198465468 hasConceptScore W3198465468C104317684 @default.
- W3198465468 hasConceptScore W3198465468C107673813 @default.
- W3198465468 hasConceptScore W3198465468C154945302 @default.
- W3198465468 hasConceptScore W3198465468C175783326 @default.
- W3198465468 hasConceptScore W3198465468C41008148 @default.
- W3198465468 hasConceptScore W3198465468C54355233 @default.
- W3198465468 hasConceptScore W3198465468C70721500 @default.
- W3198465468 hasConceptScore W3198465468C86803240 @default.
- W3198465468 hasLocation W31984654681 @default.
- W3198465468 hasOpenAccess W3198465468 @default.
- W3198465468 hasPrimaryLocation W31984654681 @default.
- W3198465468 hasRelatedWork W1907695610 @default.
- W3198465468 hasRelatedWork W2031897491 @default.
- W3198465468 hasRelatedWork W2040709122 @default.