Matches in SemOpenAlex for { <https://semopenalex.org/work/W46094488> ?p ?o ?g. }
Showing items 1 to 85 of
85
with 100 items per page.
- W46094488 endingPage "281" @default.
- W46094488 startingPage "269" @default.
- W46094488 abstract "It appears that all types of genomic nucleotide variations can be deleterious by affecting normal pre-mRNA splicing via disruption/creation of splice site consensus sequences. As it is neither pertinent nor realistic to perform functional testing for all of these variants, it is important to identify those that could lead to a splice defect in order to restrict experimental transcript analyses to the most appropriate cases. In silico tools designed to provide this type of prediction are available. In this chapter, we present in silico splice tools integrated in the Alamut (Interactive Biosoftware) application and detail their use in routine diagnostic applications. At this time, in silico predictions are useful for variants that decrease the strength of wild-type splice sites or create a cryptic splice site. Importantly, in silico predictions are not sufficient to classify variants as neutral or deleterious: they should be used as part of the decision-making process to detect potential candidates for splicing anomalies, prompting molecular geneticists to carry out transcript analyses in a limited and pertinent number of cases which could be managed in routine settings." @default.
- W46094488 created "2016-06-24" @default.
- W46094488 creator A5003218486 @default.
- W46094488 date "2011-01-01" @default.
- W46094488 modified "2023-10-03" @default.
- W46094488 title "In Silico Prediction of Splice-Affecting Nucleotide Variants" @default.
- W46094488 cites W1008280890 @default.
- W46094488 cites W1975279309 @default.
- W46094488 cites W2010650881 @default.
- W46094488 cites W2023648355 @default.
- W46094488 cites W2029853063 @default.
- W46094488 cites W2034691490 @default.
- W46094488 cites W2063318299 @default.
- W46094488 cites W2079671523 @default.
- W46094488 cites W2104342111 @default.
- W46094488 cites W2104434844 @default.
- W46094488 cites W2110400205 @default.
- W46094488 cites W2115149771 @default.
- W46094488 cites W2121114391 @default.
- W46094488 cites W2125169096 @default.
- W46094488 cites W2129682060 @default.
- W46094488 cites W2132123037 @default.
- W46094488 cites W2162396524 @default.
- W46094488 cites W2166863344 @default.
- W46094488 cites W4247292500 @default.
- W46094488 doi "https://doi.org/10.1007/978-1-61779-176-5_17" @default.
- W46094488 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21780003" @default.
- W46094488 hasPublicationYear "2011" @default.
- W46094488 type Work @default.
- W46094488 sameAs 46094488 @default.
- W46094488 citedByCount "32" @default.
- W46094488 countsByYear W460944882012 @default.
- W46094488 countsByYear W460944882013 @default.
- W46094488 countsByYear W460944882014 @default.
- W46094488 countsByYear W460944882015 @default.
- W46094488 countsByYear W460944882016 @default.
- W46094488 countsByYear W460944882017 @default.
- W46094488 countsByYear W460944882018 @default.
- W46094488 countsByYear W460944882019 @default.
- W46094488 countsByYear W460944882020 @default.
- W46094488 countsByYear W460944882021 @default.
- W46094488 crossrefType "book-chapter" @default.
- W46094488 hasAuthorship W46094488A5003218486 @default.
- W46094488 hasConcept C104317684 @default.
- W46094488 hasConcept C194583182 @default.
- W46094488 hasConcept C2775905019 @default.
- W46094488 hasConcept C2780989783 @default.
- W46094488 hasConcept C36823959 @default.
- W46094488 hasConcept C54355233 @default.
- W46094488 hasConcept C54458228 @default.
- W46094488 hasConcept C60644358 @default.
- W46094488 hasConcept C67705224 @default.
- W46094488 hasConcept C70721500 @default.
- W46094488 hasConcept C86803240 @default.
- W46094488 hasConceptScore W46094488C104317684 @default.
- W46094488 hasConceptScore W46094488C194583182 @default.
- W46094488 hasConceptScore W46094488C2775905019 @default.
- W46094488 hasConceptScore W46094488C2780989783 @default.
- W46094488 hasConceptScore W46094488C36823959 @default.
- W46094488 hasConceptScore W46094488C54355233 @default.
- W46094488 hasConceptScore W46094488C54458228 @default.
- W46094488 hasConceptScore W46094488C60644358 @default.
- W46094488 hasConceptScore W46094488C67705224 @default.
- W46094488 hasConceptScore W46094488C70721500 @default.
- W46094488 hasConceptScore W46094488C86803240 @default.
- W46094488 hasLocation W460944881 @default.
- W46094488 hasLocation W460944882 @default.
- W46094488 hasOpenAccess W46094488 @default.
- W46094488 hasPrimaryLocation W460944881 @default.
- W46094488 hasRelatedWork W1975196485 @default.
- W46094488 hasRelatedWork W2010650881 @default.
- W46094488 hasRelatedWork W2159668471 @default.
- W46094488 hasRelatedWork W2733300197 @default.
- W46094488 hasRelatedWork W3048404438 @default.
- W46094488 hasRelatedWork W3101084134 @default.
- W46094488 hasRelatedWork W3129351841 @default.
- W46094488 hasRelatedWork W3173298354 @default.
- W46094488 hasRelatedWork W4362466629 @default.
- W46094488 hasRelatedWork W46094488 @default.
- W46094488 isParatext "false" @default.
- W46094488 isRetracted "false" @default.
- W46094488 magId "46094488" @default.
- W46094488 workType "book-chapter" @default.