Matches in SemOpenAlex for { <https://semopenalex.org/work/W3039220530> ?p ?o ?g. }
- W3039220530 endingPage "1721" @default.
- W3039220530 startingPage "1705" @default.
- W3039220530 abstract "It is possible to estimate the prior probability of pathogenicity for germline disease gene variants based on bioinformatic prediction of variant effect/s. However, routinely used approaches have likely led to the underestimation and underreporting of variants located outside donor and acceptor splice site motifs that affect messenger RNA (mRNA) processing. This review presents information about hereditary cancer gene germline variants, outside native splice sites, with experimentally validated splicing effects. We list 95 exonic variants that impact splicing regulatory elements (SREs) in BRCA1, BRCA2, MLH1, MSH2, MSH6, and PMS2. We utilized a pre-existing large-scale BRCA1 functional data set to map functional SREs, and assess the relative performance of different tools to predict effects of 283 variants on such elements. We also describe rare examples of intronic variants that impact branchpoint (BP) sites and create pseudoexons. We discuss the challenges in predicting variant effect on BP site usage and pseudoexonization, and suggest strategies to improve the bioinformatic prioritization of such variants for experimental validation. Importantly, our review and analysis highlights the value of considering impact of variants outside donor and acceptor motifs on mRNA splicing and disease causation." @default.
- W3039220530 created "2020-07-10" @default.
- W3039220530 creator A5012470916 @default.
- W3039220530 creator A5054360713 @default.
- W3039220530 creator A5072586813 @default.
- W3039220530 date "2020-07-17" @default.
- W3039220530 modified "2023-10-17" @default.
- W3039220530 title "Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars" @default.
- W3039220530 cites W1974157525 @default.
- W3039220530 cites W1975196485 @default.
- W3039220530 cites W1975687045 @default.
- W3039220530 cites W1980352229 @default.
- W3039220530 cites W1981963956 @default.
- W3039220530 cites W1982411289 @default.
- W3039220530 cites W1989525083 @default.
- W3039220530 cites W1990558409 @default.
- W3039220530 cites W1990994527 @default.
- W3039220530 cites W1997530797 @default.
- W3039220530 cites W2006158201 @default.
- W3039220530 cites W2010650881 @default.
- W3039220530 cites W2013235753 @default.
- W3039220530 cites W2013528653 @default.
- W3039220530 cites W2015270062 @default.
- W3039220530 cites W2023648355 @default.
- W3039220530 cites W2029760674 @default.
- W3039220530 cites W2029979788 @default.
- W3039220530 cites W2034691490 @default.
- W3039220530 cites W2034731071 @default.
- W3039220530 cites W2035550428 @default.
- W3039220530 cites W2038921819 @default.
- W3039220530 cites W2040148139 @default.
- W3039220530 cites W2041380439 @default.
- W3039220530 cites W2042147513 @default.
- W3039220530 cites W2052898620 @default.
- W3039220530 cites W2054804513 @default.
- W3039220530 cites W2058089787 @default.
- W3039220530 cites W2062056791 @default.
- W3039220530 cites W2063318299 @default.
- W3039220530 cites W2068222572 @default.
- W3039220530 cites W2076878129 @default.
- W3039220530 cites W2077505705 @default.
- W3039220530 cites W2078265636 @default.
- W3039220530 cites W2079671523 @default.
- W3039220530 cites W2079725644 @default.
- W3039220530 cites W2081141103 @default.
- W3039220530 cites W2081825741 @default.
- W3039220530 cites W2088338354 @default.
- W3039220530 cites W2089891619 @default.
- W3039220530 cites W2091058721 @default.
- W3039220530 cites W2095998476 @default.
- W3039220530 cites W2097239855 @default.
- W3039220530 cites W2098824600 @default.
- W3039220530 cites W2102046311 @default.
- W3039220530 cites W2112540733 @default.
- W3039220530 cites W2114858580 @default.
- W3039220530 cites W2115149771 @default.
- W3039220530 cites W2117784725 @default.
- W3039220530 cites W2125169096 @default.
- W3039220530 cites W2129682060 @default.
- W3039220530 cites W2132103088 @default.
- W3039220530 cites W2132123037 @default.
- W3039220530 cites W2141993089 @default.
- W3039220530 cites W2143714914 @default.
- W3039220530 cites W2145203699 @default.
- W3039220530 cites W2145379833 @default.
- W3039220530 cites W2156861733 @default.
- W3039220530 cites W2160009291 @default.
- W3039220530 cites W2163305569 @default.
- W3039220530 cites W2172188023 @default.
- W3039220530 cites W2235359311 @default.
- W3039220530 cites W2305423778 @default.
- W3039220530 cites W2306132003 @default.
- W3039220530 cites W2601318190 @default.
- W3039220530 cites W2607048918 @default.
- W3039220530 cites W2611720143 @default.
- W3039220530 cites W2613432108 @default.
- W3039220530 cites W2671644384 @default.
- W3039220530 cites W2740545307 @default.
- W3039220530 cites W2765584677 @default.
- W3039220530 cites W2799503158 @default.
- W3039220530 cites W2804838741 @default.
- W3039220530 cites W2889874867 @default.
- W3039220530 cites W2891924624 @default.
- W3039220530 cites W2901542511 @default.
- W3039220530 cites W2902788170 @default.
- W3039220530 cites W2904497009 @default.
- W3039220530 cites W2909194804 @default.
- W3039220530 cites W2920939174 @default.
- W3039220530 cites W2947364081 @default.
- W3039220530 cites W2949776467 @default.
- W3039220530 cites W2951364430 @default.
- W3039220530 cites W3005572415 @default.
- W3039220530 cites W3005795984 @default.
- W3039220530 doi "https://doi.org/10.1002/humu.24074" @default.
- W3039220530 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32623769" @default.
- W3039220530 hasPublicationYear "2020" @default.
- W3039220530 type Work @default.
- W3039220530 sameAs 3039220530 @default.