Parathyroid MEN1 Gene Mutations in Relation to Clinical Characteristics of Nonfamilial Primary Hyperparathyroidism, Journal of Clinical Endocrinology & Metabolism, vol.83, issue.8, pp.832960-2963, 1998. ,
DOI : 10.1210/jc.83.8.2960
A DNA polymorphism discovery resource for research on human genetic variation, Genome Res, vol.8, issue.12, pp.1229-1231, 1998. ,
Sequence-based prediction of pathological mutations, Proteins: Structure, Function, and Bioinformatics, vol.26, issue.4, pp.811-819, 2004. ,
DOI : 10.1002/prot.20252
SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases, Human Mutation, vol.7, issue.2, pp.31127-135, 2010. ,
DOI : 10.1002/humu.21155
Gene???environment interactions in human diseases, Nature Reviews Genetics, vol.162, issue.4, pp.287-298, 2005. ,
DOI : 10.1093/hmg/ddg318
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits, Proceedings of the National Academy of Sciences, vol.106, issue.23, pp.1069362-9367, 2009. ,
DOI : 10.1073/pnas.0903103106
Next-generation DNA sequencing, Nature Biotechnology, vol.105, issue.10, pp.1135-1145, 2008. ,
DOI : 10.1038/nbt1486
dbSNP: the NCBI database of genetic variation, Nucleic Acids Research, vol.29, issue.1, pp.308-311, 2001. ,
DOI : 10.1093/nar/29.1.308
The Human Gene Mutation Database (HGMD) and Its Exploitation in the Fields of Personalized Genomics and Molecular Evolution, Curr Protoc Bioinformatics, vol.29, pp.1-13, 2012. ,
DOI : 10.1002/0471250953.bi0113s39
Small insertions and deletions (INDELs) in human genomes, Human Molecular Genetics, vol.19, issue.R2, pp.131-136, 2010. ,
DOI : 10.1093/hmg/ddq400
An initial map of insertion and deletion (INDEL) variation in the human genome, Genome Research, vol.16, issue.9, pp.1182-1190, 2006. ,
DOI : 10.1101/gr.4565806
Natural genetic variation caused by small insertions and deletions in the human genome, Genome Research, vol.21, issue.6, pp.830-839, 2011. ,
DOI : 10.1101/gr.115907.110
The origin, evolution, and functional impact of short insertion-deletion variants ,
A survey of tools for variant analysis of next-generation genome sequencing data, Briefings in Bioinformatics, vol.15, issue.2, pp.256-278 ,
DOI : 10.1093/bib/bbs086
Evolutionary diagnosis method for variants in personal exomes, Nature Methods, vol.9, issue.9, pp.855-856 ,
DOI : 10.1016/0005-2795(75)90109-9
A method and server for predicting damaging missense mutations, Nature Methods, vol.7, issue.4, pp.248-249, 2010. ,
DOI : 10.1038/nmeth0410-248
Predicting the Functional Effect of Amino Acid Substitutions and Indels, PLoS ONE, vol.7, issue.10, p.46688 ,
DOI : 10.1371/journal.pone.0046688.s011
Predicting the effects of frameshifting indels, Genome Biology, vol.13, issue.2, p.9 ,
DOI : 10.1093/nar/gkn325
SIFT Indel: Predictions for the Functional Effects of Amino Acid Insertions/Deletions in Proteins, PLoS ONE, vol.55, issue.10, p.77940 ,
DOI : 10.1371/journal.pone.0077940.s005
DDIG-in: discriminating between disease-associated and neutral non-frameshifting micro-indels, Genome Biology, vol.14, issue.3, p.23, 2013. ,
DOI : 10.1186/1471-2105-9-297
NguyenH:MSV3d: database of human MisSense Variants mapped to 3D protein structure, Database, p.18, 2012. ,
Easy retrieval of single amino-acid polymorphisms and phenotype information using SwissVar, Bioinformatics, vol.26, issue.6, pp.851-852, 2010. ,
DOI : 10.1093/bioinformatics/btq028
A new face and new challenges for Online Mendelian Inheritance in Man (OMIM(R)). Hum Mutat, pp.564-567, 2011. ,
KD4v: comprehensible knowledge discovery system for missense variant, Nucleic Acids Research, vol.40, issue.W1, pp.40-71 ,
DOI : 10.1093/nar/gks474
The UCSC Genome Browser database: update 2010, Nucleic Acids Research, vol.38, issue.Database, pp.38-613, 2010. ,
DOI : 10.1093/nar/gkp939
MACSIMS: multiple alignment of complete sequences information management system, BMC Bioinformatics, vol.7, issue.1, p.318, 2006. ,
DOI : 10.1186/1471-2105-7-318
URL : https://hal.archives-ouvertes.fr/hal-00188166
SPINE-D: Accurate Prediction of Short and Long Disordered Regions by a Single Neural-Network Based Method, Journal of Biomolecular Structure and Dynamics, vol.24, issue.9, pp.799-813 ,
DOI : 10.1080/073911012010525022
Predicting the Effects of Amino Acid Substitutions on Protein Function, Annual Review of Genomics and Human Genetics, vol.7, issue.1, pp.61-80, 2006. ,
DOI : 10.1146/annurev.genom.7.080505.115630
The Pfam protein families database, Nucleic Acids Research, vol.40, issue.D1, pp.40-290 ,
DOI : 10.1093/nar/gkr1065
URL : https://hal.archives-ouvertes.fr/hal-01294685
New and continuing developments at PROSITE, Nucleic Acids Research, vol.41, issue.D1, pp.41-344 ,
DOI : 10.1093/nar/gks1067
IMGT standardized criteria for statistical analysis of immunoglobulin V-REGION amino acid properties, Journal of Molecular Recognition, vol.17, issue.1, pp.17-32, 2004. ,
DOI : 10.1002/jmr.647
Relationship of sidechain hydrophobicity and ??-helical propensity on the stability of the single-stranded amphipathic ??-helix, Journal of Peptide Science, vol.247, issue.5, pp.319-329, 1995. ,
DOI : 10.1002/psc.310010507
The classification of amino acid conservation, Journal of Theoretical Biology, vol.119, issue.2, pp.205-218, 1986. ,
DOI : 10.1016/S0022-5193(86)80075-3
IUPred: web server for the prediction of intrinsically unstructured regions of proteins based on estimated energy content, Bioinformatics, vol.21, issue.16, pp.3433-3434, 2005. ,
DOI : 10.1093/bioinformatics/bti541
Real value prediction of solvent accessibility from amino acid sequence, Proteins: Structure, Function, and Bioinformatics, vol.46, issue.4, pp.629-635, 2003. ,
DOI : 10.1002/prot.10328
Origins of structure in globular proteins., Proceedings of the National Academy of Sciences, vol.87, issue.16, pp.6388-6392, 1990. ,
DOI : 10.1073/pnas.87.16.6388
Genetic Variation in an Individual Human Exome, PLoS Genetics, vol.445, issue.8, p.1000160, 2008. ,
DOI : 10.1371/journal.pgen.1000160.s013
Dynamics of Unfolded Polypeptide Chains as Model for the Earliest Steps in Protein Folding, Journal of Molecular Biology, vol.332, issue.1, pp.265-274, 2003. ,
DOI : 10.1016/S0022-2836(03)00892-1
Data mining, ACM SIGMOD Record, vol.31, issue.1, 2005. ,
DOI : 10.1145/507338.507355
Approximate dynamic programming: solving the curses of dimensionality, Wiley Series in Probability and Statistics, 2007. ,
DOI : 10.1002/9781118029176
On the relationship between feature selection and accuracy, Conference Proceedings, pp.90-105, 2008. ,
The need for low bias algorithms in classification learnings from large data sets. Principes of data mining and knowledge discovery, pp.62-73, 2002. ,
Personalized medicine: new genomics, old lessons, Human Genetics, vol.19, issue.5, pp.3-14, 2011. ,
DOI : 10.1007/s00439-011-1028-3
URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3128266
Human Genome Sequencing in Health and Disease, Annual Review of Medicine, vol.63, issue.1, pp.35-61, 2012. ,
DOI : 10.1146/annurev-med-051010-162644
The complete genome of an individual by massively parallel DNA sequencing, Nature, vol.2, issue.7189, pp.452872-876, 2008. ,
DOI : 10.1038/nature06884
A Kinesin Heavy Chain (KIF5A) Mutation in Hereditary Spastic Paraplegia (SPG10), The American Journal of Human Genetics, vol.71, issue.5, pp.711189-1194, 2002. ,
DOI : 10.1086/344210
Spastic Paraplegia Mutation N256S in the Neuronal Microtubule Motor KIF5A Disrupts Axonal Transport in a Drosophila HSP Model, PLoS Genetics, vol.3, issue.2, p.1003066 ,
DOI : 10.1371/journal.pgen.1003066.s013
Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data, Nature Reviews Genetics, vol.39, issue.9, pp.628-640, 2011. ,
DOI : 10.1038/nrg3046
A comprehensive study of small non-frameshift insertions/deletions in proteins and prediction of their phenotypic effects by a machine learning method (KD4i), BMC Bioinformatics, vol.15, issue.1, p.111, 2014. ,
DOI : 10.1038/nrg3046
URL : https://hal.archives-ouvertes.fr/inserm-00988598