Competency information
Details
Assign interpreted and called mutations with regard to clinically actionable events and assist in multidisciplinary direction of clinical pathway.
Considerations
- Quality metrics.
- Oral communication skills.
- Relational database management systems, e.g.POSTGres, Oracle.
- External genomic databases, e.g. Single-Nucleotide Polymorphisms Database (dbSNP).
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 3 | Outcome In partnership with the relevant clinical specialist interpret NGS data through SNP, InDEL and CNV analysis, and relate to phenotypic data. |