Evaluation of a 5‐Tier Scheme Proposed for Classification of Sequence Variants Using Bioinformatic and Splicing Assay Data: Inter‐Reviewer Variability and Promotion of Minimum Reporting Guidelines

Evaluation of a 5‐Tier Scheme Proposed for Classification of Sequence Variants Using Bioinformatic and Splicing Assay Data: Inter‐Reviewer Variability and Promotion of Minimum Reporting Guidelines

Source :

• Human Mutation [ 1059-7794 ] ; 2013-10.

English descriptors

• KwdEn :
  • Aberrant transcripts, Aberration, Allele, Assay, Assay data, Assay design, Assay results, Bioinformatic, Bioinformatic prediction, Bioinformatic predictions, Brca1, Brca2, Brca2 variants, Breast cancer, Class allele, Class class, Deletion, Enigma consortium, Exon, Exonic, Exonic variants, Frame deletion, Future studies, Goldgar, Guideline, Human mutation, Iarc system, Intronic, Intronic variant, Intronic variants, Isoforms, Methodological issues, Missense, Missense alteration, Missense substitution, Missense substitutions, Mrna, Mrna aberration, Mrna aberrations, Mrna assay data, Multifactorial, Multifactorial analysis, Multifactorial likelihood analysis, Mutat, Mutation, Pathogenic, Pathogenicity, Protein coding, Protein function, Protein truncation, Quantitative data, Rare variants, Reviewer, Sequence variants, Splice, Substitution, Supp, Tavtigian, Transcript, Transcript patterns, Truncation, Variant, Variant allele, Variant allele contribution, Variant assays, Variant location.
• Teeft :
  • Aberrant transcripts, Aberration, Allele, Assay, Assay data, Assay design, Assay results, Bioinformatic, Bioinformatic prediction, Bioinformatic predictions, Brca1, Brca2, Brca2 variants, Breast cancer, Class allele, Class class, Deletion, Enigma consortium, Exon, Exonic, Exonic variants, Frame deletion, Future studies, Goldgar, Guideline, Human mutation, Iarc system, Intronic, Intronic variant, Intronic variants, Isoforms, Methodological issues, Missense, Missense alteration, Missense substitution, Missense substitutions, Mrna, Mrna aberration, Mrna aberrations, Mrna assay data, Multifactorial, Multifactorial analysis, Multifactorial likelihood analysis, Mutat, Mutation, Pathogenic, Pathogenicity, Protein coding, Protein function, Protein truncation, Quantitative data, Rare variants, Reviewer, Sequence variants, Splice, Substitution, Supp, Tavtigian, Transcript, Transcript patterns, Truncation, Variant, Variant allele, Variant allele contribution, Variant assays, Variant location.

Abstract

• https://api.istex.fr/document/6AD65D7D170CE67DBD17067919F2494EF7C06F58/fulltext/pdf

Affiliations:

• Australie, Danemark, Espagne, France, Italie, Nouvelle-Zélande, Royaume-Uni
• Galice, Lombardie, Victoria (État), Île-de-France
• Melbourne, Milan, Paris, Santiago de Compostela
• Université Paris-Descartes, Université de Melbourne, Université de Saint-Jacques-de-Compostelle

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