Prediction and assessment of splicing alterations: implications for clinical testing

Prediction and assessment of splicing alterations: implications for clinical testing

Source :

• Human Mutation [ 1059-7794 ] ; 2008-11.

Descripteurs français

• Wicri :
  • topic : Recherche médicale.

English descriptors

• KwdEn :
  • Aberrant, Aberration, Acceptor, Acceptor sites, Acceptor splice sites, Additional funding, Additional studies, Algorithm, Allele, Alteration, Assay, Bioinformatic, Bioinformatic analyses, Bioinformatic analysis, Bioinformatic prediction, Bioinformatic predictions, Bioinformatic programs, Bioinformatic tools, Blood samples, Boundarye exonic variants, Branch point sites, Brca1, Brca1 brct, Brca1 exon, Brca1 ring, Brca2, Brca2 variants, Breast cancer, Burge, Cancer research, Cancer risk, Cell type, Clinical laboratories, Clinical management, Clinical relevance, Clinical significance, Clinical testing, Codon, Computational, Computational tools, Consensus splice regions, Consensus splice sites, Considerable evidence, Convincing evidence, Cryptic site, Cryptic splice site, Cryptic splice sites, Current data, Current practices, Default settings, Deletion, Donor sites, Easton, Easy retrieval, Ectopic splice sites, Enhancer, Es, Exon, Exonic, Exonic missense, Exonic regions, Exonic variants, Experimental evidence, Fasta, Fasta format, Fresh blood, Further data, Further development, Further information, Further study, Genet, Genetic variants, Goldgar, Grant number, Grant sponsor, Graphical output, Higher level, Hospices civils, Human disease genes, Human mutation, Iarc, Information theory, Inframe deletions, International databases, Intronic, Intronic variants, Italian association, Laboratory data, Large numbers, Mayo clinic, Medical research, Medical research council, Missense, Missense substitution, Missense substitutions, Missense variants, Mrna, Multifactorial, Multifactorial likelihood analysis, Multifactorial likelihood approaches, Mutat, Mutation, Mutation pattern, Netherlands cancer institute, Nucleic, Nucleic acids, Nucleotide, Nucleotide structure, Other alterations, Other exonic, Particular class, Pathogenic, Physiological alternative, Population health division, Posterior probability, Prediction, Prediction programs, Queensland institute, Rare sequence variants, Routine assessment, Sequence alterations, Sequence change, Sequence changes, Sequence information, Sequence motifs, Sequence statistics, Sequence variants, Silent mutations, Similar transcripts, Single sequences, Splice, Splice acceptor sites, Splice donor, Splice junctions, Splice products, Splice site, Splice site prediction, Splice sites, Substitution, Such assays, Such variants, Target tissue, Tavtigian, Threshold alteration, Transcript, Uncertain significance, Unclassified variants, Unpublished data, Variant, Variant allele, Variant carrier, Variant classification.
• Teeft :
  • Aberrant, Aberration, Acceptor, Acceptor sites, Acceptor splice sites, Additional funding, Additional studies, Algorithm, Allele, Alteration, Assay, Bioinformatic, Bioinformatic analyses, Bioinformatic analysis, Bioinformatic prediction, Bioinformatic predictions, Bioinformatic programs, Bioinformatic tools, Blood samples, Boundarye exonic variants, Branch point sites, Brca1, Brca1 brct, Brca1 exon, Brca1 ring, Brca2, Brca2 variants, Breast cancer, Burge, Cancer research, Cancer risk, Cell type, Clinical laboratories, Clinical management, Clinical relevance, Clinical significance, Clinical testing, Codon, Computational, Computational tools, Consensus splice regions, Consensus splice sites, Considerable evidence, Convincing evidence, Cryptic site, Cryptic splice site, Cryptic splice sites, Current data, Current practices, Default settings, Deletion, Donor sites, Easton, Easy retrieval, Ectopic splice sites, Enhancer, Es, Exon, Exonic, Exonic missense, Exonic regions, Exonic variants, Experimental evidence, Fasta, Fasta format, Fresh blood, Further data, Further development, Further information, Further study, Genet, Genetic variants, Goldgar, Grant number, Grant sponsor, Graphical output, Higher level, Hospices civils, Human disease genes, Human mutation, Iarc, Information theory, Inframe deletions, International databases, Intronic, Intronic variants, Italian association, Laboratory data, Large numbers, Mayo clinic, Medical research, Medical research council, Missense, Missense substitution, Missense substitutions, Missense variants, Mrna, Multifactorial, Multifactorial likelihood analysis, Multifactorial likelihood approaches, Mutat, Mutation, Mutation pattern, Netherlands cancer institute, Nucleic, Nucleic acids, Nucleotide, Nucleotide structure, Other alterations, Other exonic, Particular class, Pathogenic, Physiological alternative, Population health division, Posterior probability, Prediction, Prediction programs, Queensland institute, Rare sequence variants, Routine assessment, Sequence alterations, Sequence change, Sequence changes, Sequence information, Sequence motifs, Sequence statistics, Sequence variants, Silent mutations, Similar transcripts, Single sequences, Splice, Splice acceptor sites, Splice donor, Splice junctions, Splice products, Splice site, Splice site prediction, Splice sites, Substitution, Such assays, Such variants, Target tissue, Tavtigian, Threshold alteration, Transcript, Uncertain significance, Unclassified variants, Unpublished data, Variant, Variant allele, Variant carrier, Variant classification.

Abstract

• https://api.istex.fr/document/AE892D8CFB864DD2D195E44DF4E267CD5ADABFC5/fulltext/pdf
• http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2832470

Affiliations:

• Australie, France, Italie, Pays-Bas, États-Unis
• Auvergne-Rhône-Alpes, Hollande-Septentrionale, Lombardie, Minnesota, Rhône-Alpes
• Amsterdam, Lyon, Milan

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