TY  - GEN 
AU  - Quintas-Rey, R.
AU  - Amigo Lechuga, Jorge
AU  - Carracedo Álvarez, Ángel
AU  - Barros Angueira, Francisco
PY  - 2020
SN  - 1018-4813
UR  - http://hdl.handle.net/20.500.11940/16789
AB  - Introduction: Alterations in splicing sites (ss) are estimated to explain approximately 10% of human disease causal variants. Mutations outside the ss but affecting “regulatory elements” can be up to 25%. Accurate deleteriousness prediction for...
TI  - Performance evaluation of deleteriousness prediction methods for intronic SNVs in next generation sequences
DO  - http://dx.doi.org/10.1038/s41431-020-00739-z
KW  - FPGMX
VL  - 28
ER  -