Prediction and assessment of splicing alterations: implications for clinical testing.

@article{Spurdle2008PredictionAA,
  title={Prediction and assessment of splicing alterations: implications for clinical testing.},
  author={Amanda B Spurdle and Fergus J. Couch and Frans Hogervorst and Paolo Radice and Olga Sinilnikova},
  journal={Human mutation},
  year={2008},
  volume={29 11},
  pages={1304-13}
}
Sequence variants that may result in splicing alterations are a particular class of inherited variants for which consequences can be more readily assessed, using a combination of bioinformatic prediction methods and in vitro assays. There is also a general agreement that a variant would invariably be considered pathogenic on the basis of convincing evidence that it results in transcript(s) carrying a premature stop codon or an in-frame deletion disrupting known functional domain(s). This… CONTINUE READING