Functional and in-silico interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

@inproceedings{Ellingford2019FunctionalAI,
  title={Functional and in-silico interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders},
  author={Jamie M Ellingford and Huw B. Thomas and Charlie F Rowlands and Gavin Arno and Glenda M Beaman and Beatriz Gomes-Silva and Christopher Campbell and Nicole C. Gossan and Claire Hardcastle and Kevin Webb and Christopher O’Callaghan and Robert A. Hirst and Simon C. Ramsden and Elizabeth A. Jones and Jill Clayton-Smith and Andrew R. Webster and Raymond T O'Keefe and William G. Newman and Graeme C.M. Black},
  year={2019}
}
Abstract Purpose To develop a comprehensive analysis framework to identify pre-messenger RNA splicing mutations in the context of rare disease. Methods We assessed ‘variants of uncertain significance’ through six in-silico prioritization strategies. Firstly, through comparison to functional analyses, we determined the precise effect on splicing of variants identified through clinical multi-disciplinary meetings. Next, we calculated the sensitivity of in-silico prioritization strategies to… CONTINUE READING