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- W3046307771 endingPage "1829" @default.
- W3046307771 startingPage "1811" @default.
- W3046307771 abstract "Discriminating which nucleotide variants cause disease or contribute to phenotypic traits remains a major challenge in human genetics. In theory, any intragenic variant can potentially affect RNA splicing by altering splicing regulatory elements (SREs). However, these alterations are often ignored mainly because pioneer SRE predictors have proved inefficient. Here, we report the first large-scale comparative evaluation of four user-friendly SRE-dedicated algorithms (QUEPASA, HEXplorer, SPANR, and HAL) tested both as standalone tools and in multiple combined ways based on two independent benchmark datasets adding up to >1,300 exonic variants studied at the messenger RNA level and mapping to 89 different disease-causing genes. These methods display good predictive power, based on decision thresholds derived from the receiver operating characteristics curve analyses, with QUEPASA and HAL having the best accuracies either as standalone or in combination. Still, overall there was a tight race between the four predictors, suggesting that all methods may be of use. Additionally, QUEPASA and HEXplorer may be beneficial as well for predicting variant-induced creation of pseudoexons deep within introns. Our study highlights the potential of SRE predictors as filtering tools for identifying disease-causing candidates among the plethora of variants detected by high-throughput DNA sequencing and provides guidance for their use in genomic medicine settings." @default.
- W3046307771 created "2020-08-07" @default.
- W3046307771 creator A5002933829 @default.
- W3046307771 creator A5003018343 @default.
- W3046307771 creator A5005151779 @default.
- W3046307771 creator A5007952303 @default.
- W3046307771 creator A5021709517 @default.
- W3046307771 creator A5028057348 @default.
- W3046307771 creator A5043043798 @default.
- W3046307771 creator A5065843661 @default.
- W3046307771 creator A5066757544 @default.
- W3046307771 date "2020-08-16" @default.
- W3046307771 modified "2023-09-26" @default.
- W3046307771 title "Large‐scale comparative evaluation of user‐friendly tools for predicting variant‐induced alterations of splicing regulatory elements" @default.
- W3046307771 cites W1504845338 @default.
- W3046307771 cites W1535548930 @default.
- W3046307771 cites W1543222911 @default.
- W3046307771 cites W1556386043 @default.
- W3046307771 cites W1968569455 @default.
- W3046307771 cites W1968729944 @default.
- W3046307771 cites W1975196485 @default.
- W3046307771 cites W1983924599 @default.
- W3046307771 cites W1985532482 @default.
- W3046307771 cites W1993451163 @default.
- W3046307771 cites W2003337137 @default.
- W3046307771 cites W2013919595 @default.
- W3046307771 cites W2020252470 @default.
- W3046307771 cites W2027699344 @default.
- W3046307771 cites W2040780606 @default.
- W3046307771 cites W2042153689 @default.
- W3046307771 cites W2051233811 @default.
- W3046307771 cites W2051978340 @default.
- W3046307771 cites W2053830735 @default.
- W3046307771 cites W2054185647 @default.
- W3046307771 cites W2054804513 @default.
- W3046307771 cites W2058870956 @default.
- W3046307771 cites W2059600528 @default.
- W3046307771 cites W2060913542 @default.
- W3046307771 cites W2063318299 @default.
- W3046307771 cites W2075661710 @default.
- W3046307771 cites W2078512370 @default.
- W3046307771 cites W2078617569 @default.
- W3046307771 cites W2088338354 @default.
- W3046307771 cites W2089661016 @default.
- W3046307771 cites W2091058721 @default.
- W3046307771 cites W2091907886 @default.
- W3046307771 cites W2095998476 @default.
- W3046307771 cites W2097956925 @default.
- W3046307771 cites W2098245055 @default.
- W3046307771 cites W2101505979 @default.
- W3046307771 cites W2102046311 @default.
- W3046307771 cites W2103534177 @default.
- W3046307771 cites W2108405889 @default.
- W3046307771 cites W2109458623 @default.
- W3046307771 cites W2112540733 @default.
- W3046307771 cites W2114791882 @default.
- W3046307771 cites W2116481364 @default.
- W3046307771 cites W2118150714 @default.
- W3046307771 cites W2118551099 @default.
- W3046307771 cites W2122732537 @default.
- W3046307771 cites W2129682060 @default.
- W3046307771 cites W2132123037 @default.
- W3046307771 cites W2132978049 @default.
- W3046307771 cites W2154491135 @default.
- W3046307771 cites W2155249807 @default.
- W3046307771 cites W2163305569 @default.
- W3046307771 cites W2166782903 @default.
- W3046307771 cites W2168440186 @default.
- W3046307771 cites W2174602966 @default.
- W3046307771 cites W2189621653 @default.
- W3046307771 cites W2235359311 @default.
- W3046307771 cites W2304491401 @default.
- W3046307771 cites W2375849612 @default.
- W3046307771 cites W2396849069 @default.
- W3046307771 cites W2518784337 @default.
- W3046307771 cites W2528442309 @default.
- W3046307771 cites W2558715006 @default.
- W3046307771 cites W2587969176 @default.
- W3046307771 cites W2604078450 @default.
- W3046307771 cites W2605631262 @default.
- W3046307771 cites W2606017070 @default.
- W3046307771 cites W2613432108 @default.
- W3046307771 cites W2740545307 @default.
- W3046307771 cites W2761275051 @default.
- W3046307771 cites W2774515756 @default.
- W3046307771 cites W2790471186 @default.
- W3046307771 cites W2799503158 @default.
- W3046307771 cites W2806983385 @default.
- W3046307771 cites W2883782161 @default.
- W3046307771 cites W2888062132 @default.
- W3046307771 cites W2889874867 @default.
- W3046307771 cites W2891924624 @default.
- W3046307771 cites W2900040744 @default.
- W3046307771 cites W2902014603 @default.
- W3046307771 cites W2909194804 @default.
- W3046307771 cites W2918497364 @default.
- W3046307771 cites W2922454987 @default.
- W3046307771 cites W2949444664 @default.