The Cystic Fibrosis Gene: A Molecular Genetic Perspective. Cold Spring Harbor Perspect ,
The genetics and genomics of cystic fibrosis, J. Cyst. Fibrosis, vol.19, pp.5-9, 2019. ,
Protein misfolding disorders: Pathogenesis and intervention, J. Inherit. Metab. Dis, vol.29, pp.456-470, 2006. ,
Protein misfolding disorders and macroautophagy, Curr. Opin. Cell Biol, vol.23, pp.190-197, 2011. ,
An integrated map of genetic variation from 1,092 human genomes, Nature, vol.492, pp.56-65, 2012. ,
Predicting the Effects of Amino Acid Substitutions on Protein Function, Ann. Rev. Genom. Hum. Genet, vol.7, pp.61-80, 2006. ,
Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, College of American Pathologists. J. Mol. Diagn, vol.19, pp.4-23, 2017. ,
PANTHER in 2013: Modeling the evolution of gene function, and other gene attributes, in the context of phylogenetic trees, Nucleic Acids Res, vol.41, pp.377-386, 2013. ,
STRUM: structure-based prediction of protein stability changes upon single-point mutation, Bioinformatics, vol.32, pp.2936-2946, 2016. ,
A method and server for predicting damaging missense mutations, Nat. Methods, vol.7, pp.248-249, 2010. ,
Congruency in the prediction of pathogenic missense mutations: state-of-the-art web-based tools, Brief. Bioinform, vol.14, pp.448-459, 2013. ,
Performance of mutation pathogenicity prediction methods on missense variants, Hum. Mutat, vol.32, pp.358-368, 2011. ,
Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed, Hum. Mutat, vol.32, pp.661-668, 2011. ,
Biological techniques: Edit the genome to understand it, Nature, vol.513, pp.40-41, 2014. ,
Accurate classification of BRCA1 variants with saturation genome editing, Nature, vol.562, pp.217-222, 2018. ,
A Multiplex Homology-Directed DNA Repair Assay Reveals the Impact of More Than 1000 BRCA1 Missense Substitution Variants on Protein Function, Am. J. Hum. Genet, vol.103, pp.498-508, 2018. ,
Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination, Cancer Res, vol.70, pp.988-995, 2010. ,
Cancer genetics, precision prevention and a call to action, Nat. Genet, vol.50, pp.1212-1218, 2018. ,
Predicting the Functional Effect of Amino Acid Substitutions and Indels, PLoS ONE, vol.7, 2012. ,
Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral, J. Med. Genet, vol.43, pp.295-305, 2006. ,
CUPSAT: Prediction of protein stability upon point mutations, Nucleic Acids Res, vol.34, pp.239-242, 2006. ,
R: A Language and Environment for Statistical Computing; R Foundation for Statistical Computing, 2017. ,
Kendall's, T. International Encyclopedia of Statistical Science, pp.713-715, 2011. ,
Spearman Rank Correlation Coefficient, The Concise Encyclopedia of Statistics, pp.502-505, 2008. ,
The Pfam protein families database, Nucleic Acids Res, vol.40, pp.290-301, 2012. ,
URL : https://hal.archives-ouvertes.fr/hal-01294685
, This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license, Licensee MDPI