TY  - JOUR
AU  - Cabrera-Alarcón, José Luis
AU  - García Martinez, Jorge
AU  - Enriquez, Jose Antonio
AU  - Sanchez-Cabo, Fatima
PY  - 2022
DO  - 10.1038/s41431-021-01034-1
UR  - http://hdl.handle.net/20.500.12105/15668
AB  - Accurate detection of pathogenic single nucleotide variants (SNVs) is a key challenge in whole exome and whole genome sequencing studies. To date, several in silico tools have been developed to predict deleterious variants from this type of data....
LA  - eng
PB  - Nature Publishing Group
KW  - Exome
KW  - Genomics
KW  - Humans
KW  - Mutation
KW  - Exome Sequencing
TI  - Variant pathogenic prediction by locus variability: the importance of the current picture of evolution.
TY  - journal article
ER  -