From: Increased diagnostic yield by reanalysis of data from a hearing loss gene panel
Step | Purpose | Potential sources of improvement |
---|---|---|
Variant reinterpretation | To reassess the pathogenicity of variants | New evidence from publications to upgrade the pathogenicity New standards and guidelines for variant interpretation |
Expanded analysis | To detect copy number variants To expand analysis to other hearing loss related genes | Missed copy number variants Phenotypic heterogeneity Incorrect targeted panel tested |