Matches in SemOpenAlex for { <https://semopenalex.org/work/W3206573338> ?p ?o ?g. }
- W3206573338 abstract "The development of computational methods to assess pathogenicity of pre-messenger RNA splicing variants is critical for diagnosis of human disease. We assessed the capability of eight algorithms, and a consensus approach, to prioritize 249 variants of uncertain significance (VUSs) that underwent splicing functional analyses. The capability of algorithms to differentiate VUSs away from the immediate splice site as being 'pathogenic' or 'benign' is likely to have substantial impact on diagnostic testing. We show that SpliceAI is the best single strategy in this regard, but that combined usage of tools using a weighted approach can increase accuracy further. We incorporated prioritization strategies alongside diagnostic testing for rare disorders. We show that 15% of 2783 referred individuals carry rare variants expected to impact splicing that were not initially identified as 'pathogenic' or 'likely pathogenic'; one in five of these cases could lead to new or refined diagnoses." @default.
- W3206573338 created "2021-10-25" @default.
- W3206573338 creator A5003048867 @default.
- W3206573338 creator A5005526067 @default.
- W3206573338 creator A5007549481 @default.
- W3206573338 creator A5008723999 @default.
- W3206573338 creator A5008780949 @default.
- W3206573338 creator A5009253078 @default.
- W3206573338 creator A5009530521 @default.
- W3206573338 creator A5010443784 @default.
- W3206573338 creator A5012413253 @default.
- W3206573338 creator A5013899640 @default.
- W3206573338 creator A5013910686 @default.
- W3206573338 creator A5014146630 @default.
- W3206573338 creator A5014458985 @default.
- W3206573338 creator A5014590345 @default.
- W3206573338 creator A5015371068 @default.
- W3206573338 creator A5017238513 @default.
- W3206573338 creator A5017834529 @default.
- W3206573338 creator A5018951212 @default.
- W3206573338 creator A5020080514 @default.
- W3206573338 creator A5021709237 @default.
- W3206573338 creator A5022393909 @default.
- W3206573338 creator A5023430588 @default.
- W3206573338 creator A5027079581 @default.
- W3206573338 creator A5032288019 @default.
- W3206573338 creator A5033808060 @default.
- W3206573338 creator A5034347591 @default.
- W3206573338 creator A5037665542 @default.
- W3206573338 creator A5037760155 @default.
- W3206573338 creator A5039633676 @default.
- W3206573338 creator A5040035281 @default.
- W3206573338 creator A5044755722 @default.
- W3206573338 creator A5044830282 @default.
- W3206573338 creator A5045553488 @default.
- W3206573338 creator A5046092979 @default.
- W3206573338 creator A5047435332 @default.
- W3206573338 creator A5048005458 @default.
- W3206573338 creator A5048156258 @default.
- W3206573338 creator A5048271276 @default.
- W3206573338 creator A5049126232 @default.
- W3206573338 creator A5049565387 @default.
- W3206573338 creator A5051241422 @default.
- W3206573338 creator A5051307930 @default.
- W3206573338 creator A5052723889 @default.
- W3206573338 creator A5052733211 @default.
- W3206573338 creator A5053154938 @default.
- W3206573338 creator A5055284086 @default.
- W3206573338 creator A5055393004 @default.
- W3206573338 creator A5056156268 @default.
- W3206573338 creator A5056180074 @default.
- W3206573338 creator A5056744774 @default.
- W3206573338 creator A5058403686 @default.
- W3206573338 creator A5061349790 @default.
- W3206573338 creator A5061790199 @default.
- W3206573338 creator A5062194841 @default.
- W3206573338 creator A5062534223 @default.
- W3206573338 creator A5063495458 @default.
- W3206573338 creator A5063982664 @default.
- W3206573338 creator A5064165872 @default.
- W3206573338 creator A5065495238 @default.
- W3206573338 creator A5066428890 @default.
- W3206573338 creator A5066511197 @default.
- W3206573338 creator A5066580354 @default.
- W3206573338 creator A5068162021 @default.
- W3206573338 creator A5069454171 @default.
- W3206573338 creator A5070615219 @default.
- W3206573338 creator A5070917769 @default.
- W3206573338 creator A5071459991 @default.
- W3206573338 creator A5072894526 @default.
- W3206573338 creator A5077765578 @default.
- W3206573338 creator A5078032321 @default.
- W3206573338 creator A5078058754 @default.
- W3206573338 creator A5084608094 @default.
- W3206573338 creator A5085228165 @default.
- W3206573338 creator A5085779691 @default.
- W3206573338 creator A5088269508 @default.
- W3206573338 creator A5088727176 @default.
- W3206573338 creator A5089630665 @default.
- W3206573338 creator A5090291315 @default.
- W3206573338 creator A5091596735 @default.
- W3206573338 date "2021-10-18" @default.
- W3206573338 modified "2023-10-16" @default.
- W3206573338 title "Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders" @default.
- W3206573338 cites W1764005853 @default.
- W3206573338 cites W1971606316 @default.
- W3206573338 cites W2018838463 @default.
- W3206573338 cites W2030606891 @default.
- W3206573338 cites W2034691490 @default.
- W3206573338 cites W2045131720 @default.
- W3206573338 cites W2045791858 @default.
- W3206573338 cites W2051978340 @default.
- W3206573338 cites W2075162142 @default.
- W3206573338 cites W2076154138 @default.
- W3206573338 cites W2088338354 @default.
- W3206573338 cites W2103441770 @default.
- W3206573338 cites W2119845149 @default.
- W3206573338 cites W2138956466 @default.
- W3206573338 cites W2156190275 @default.
- W3206573338 cites W2160995259 @default.