FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2068117118> ?p ?o ?g. }

• W2068117118 endingPage "1524" @default.
• W2068117118 startingPage "1516" @default.
• W2068117118 abstract "SummaryThe problem of interpreting missense mutations of disease-causing genes is an increasingly important one. Because these point mutations result in alteration of only a single amino acid of the protein product, it is often unclear whether this change alone is sufficient to cause disease. We propose a Bayesian approach that utilizes genetic information on affected relatives in families ascertained through known missense-mutation carriers. This method is useful in evaluating known disease genes for common disease phenotypes, such as breast cancer or colorectal cancer. The posterior probability that a missense mutation is disease causing is conditioned on the relationship of the relatives to the proband, the population frequency of the mutation, and the phenocopy rate of the disease. The approach is demonstrated in two cancer data sets: BRCA1 R841W and APC I1307K. In both examples, this method helps establish that these mutations are likely to be disease causing, with Bayes factors in favor of causality of 5.09 and 66.97, respectively, and posterior probabilities of .836 and .985. We also develop a simple approximation for rare alleles and consider the case of unknown penetrance and allele frequency. The problem of interpreting missense mutations of disease-causing genes is an increasingly important one. Because these point mutations result in alteration of only a single amino acid of the protein product, it is often unclear whether this change alone is sufficient to cause disease. We propose a Bayesian approach that utilizes genetic information on affected relatives in families ascertained through known missense-mutation carriers. This method is useful in evaluating known disease genes for common disease phenotypes, such as breast cancer or colorectal cancer. The posterior probability that a missense mutation is disease causing is conditioned on the relationship of the relatives to the proband, the population frequency of the mutation, and the phenocopy rate of the disease. The approach is demonstrated in two cancer data sets: BRCA1 R841W and APC I1307K. In both examples, this method helps establish that these mutations are likely to be disease causing, with Bayes factors in favor of causality of 5.09 and 66.97, respectively, and posterior probabilities of .836 and .985. We also develop a simple approximation for rare alleles and consider the case of unknown penetrance and allele frequency." @default.
• W2068117118 created "2016-06-24" @default.
• W2068117118 creator A5021077470 @default.
• W2068117118 creator A5048782070 @default.
• W2068117118 creator A5050977500 @default.
• W2068117118 date "1998-06-01" @default.
• W2068117118 modified "2023-09-30" @default.
• W2068117118 title "Missense Mutations in Disease Genes: A Bayesian Approach to Evaluate Causality" @default.
• W2068117118 cites W1508088836 @default.
• W2068117118 cites W1981691571 @default.
• W2068117118 cites W1981892038 @default.
• W2068117118 cites W2001147484 @default.
• W2068117118 cites W2047981249 @default.
• W2068117118 cites W2052165838 @default.
• W2068117118 cites W2058630249 @default.
• W2068117118 cites W2063303386 @default.
• W2068117118 cites W2064785659 @default.
• W2068117118 cites W2074846736 @default.
• W2068117118 cites W2085390184 @default.
• W2068117118 cites W2088536629 @default.
• W2068117118 cites W2167655813 @default.
• W2068117118 cites W2314321414 @default.
• W2068117118 cites W2316857075 @default.
• W2068117118 cites W333132089 @default.
• W2068117118 cites W4211177544 @default.
• W2068117118 cites W4244132223 @default.
• W2068117118 cites W4291382095 @default.
• W2068117118 cites W4292405008 @default.
• W2068117118 cites W4322384960 @default.
• W2068117118 doi "https://doi.org/10.1086/301871" @default.
• W2068117118 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1377150" @default.
• W2068117118 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9585599" @default.
• W2068117118 hasPublicationYear "1998" @default.
• W2068117118 type Work @default.
• W2068117118 sameAs 2068117118 @default.
• W2068117118 citedByCount "42" @default.
• W2068117118 countsByYear W20681171182013 @default.
• W2068117118 countsByYear W20681171182014 @default.
• W2068117118 countsByYear W20681171182017 @default.
• W2068117118 countsByYear W20681171182018 @default.
• W2068117118 countsByYear W20681171182021 @default.
• W2068117118 countsByYear W20681171182023 @default.
• W2068117118 crossrefType "journal-article" @default.
• W2068117118 hasAuthorship W2068117118A5021077470 @default.
• W2068117118 hasAuthorship W2068117118A5048782070 @default.
• W2068117118 hasAuthorship W2068117118A5050977500 @default.
• W2068117118 hasBestOaLocation W20681171181 @default.
• W2068117118 hasConcept C104317684 @default.
• W2068117118 hasConcept C126322002 @default.
• W2068117118 hasConcept C127716648 @default.
• W2068117118 hasConcept C176944494 @default.
• W2068117118 hasConcept C180754005 @default.
• W2068117118 hasConcept C188997412 @default.
• W2068117118 hasConcept C200544954 @default.
• W2068117118 hasConcept C2779134260 @default.
• W2068117118 hasConcept C2908647359 @default.
• W2068117118 hasConcept C501734568 @default.
• W2068117118 hasConcept C54355233 @default.
• W2068117118 hasConcept C71924100 @default.
• W2068117118 hasConcept C75563809 @default.
• W2068117118 hasConcept C86803240 @default.
• W2068117118 hasConcept C99454951 @default.
• W2068117118 hasConceptScore W2068117118C104317684 @default.
• W2068117118 hasConceptScore W2068117118C126322002 @default.
• W2068117118 hasConceptScore W2068117118C127716648 @default.
• W2068117118 hasConceptScore W2068117118C176944494 @default.
• W2068117118 hasConceptScore W2068117118C180754005 @default.
• W2068117118 hasConceptScore W2068117118C188997412 @default.
• W2068117118 hasConceptScore W2068117118C200544954 @default.
• W2068117118 hasConceptScore W2068117118C2779134260 @default.
• W2068117118 hasConceptScore W2068117118C2908647359 @default.
• W2068117118 hasConceptScore W2068117118C501734568 @default.
• W2068117118 hasConceptScore W2068117118C54355233 @default.
• W2068117118 hasConceptScore W2068117118C71924100 @default.
• W2068117118 hasConceptScore W2068117118C75563809 @default.
• W2068117118 hasConceptScore W2068117118C86803240 @default.
• W2068117118 hasConceptScore W2068117118C99454951 @default.
• W2068117118 hasIssue "6" @default.
• W2068117118 hasLocation W20681171181 @default.
• W2068117118 hasLocation W20681171182 @default.
• W2068117118 hasLocation W20681171183 @default.
• W2068117118 hasLocation W20681171184 @default.
• W2068117118 hasOpenAccess W2068117118 @default.
• W2068117118 hasPrimaryLocation W20681171181 @default.
• W2068117118 hasRelatedWork W2073260365 @default.
• W2068117118 hasRelatedWork W2116572532 @default.
• W2068117118 hasRelatedWork W2166203583 @default.
• W2068117118 hasRelatedWork W2198170080 @default.
• W2068117118 hasRelatedWork W2349400098 @default.
• W2068117118 hasRelatedWork W2362650105 @default.
• W2068117118 hasRelatedWork W2409341427 @default.
• W2068117118 hasRelatedWork W3024306633 @default.
• W2068117118 hasRelatedWork W3031265329 @default.
• W2068117118 hasRelatedWork W3037357169 @default.
• W2068117118 hasVolume "62" @default.
• W2068117118 isParatext "false" @default.
• W2068117118 isRetracted "false" @default.
• W2068117118 magId "2068117118" @default.

• next