Article
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.
Human mutation - 1 Oct 2013
Walker Logan C, Whiley Phillip J, Houdayer Claude, Hansen Thomas V O, Vega Ana, Santamarina Marta, Blanco Ana, Fachal Laura, Southey Melissa C, Lafferty Alan, Colombo Mara, De Vecchi Giovanna, Radice Paolo, Spurdle Amanda B
Abstract excerpt
Splicing assays are commonly undertaken in the clinical setting to assess the clinical relevance of sequence variants in disease predisposition genes. A 5-tier classification system incorporating both bioinformatic and splicing assay information was previously proposed as a method to provide consistent clinical classification of such variants. Members of the ENIGMA Consortium Splicing Working Group undertook a...
Topics
- Breast Neoplasms
- Computational Biology
- Female
- Genes, BRCA1
- Genes, BRCA2
- Genetic Predisposition to Disease
- Genetic Variation
- Humans
- RNA Splicing