Competency information
Details
Describe, in MDTs or consultations, the way results of genomic tests are generated and filtered, as well as the challenges and limitations of bioinformatics techniques.
Considerations
- Current sequencing approaches.
- Alignment of sequence to the reference genome.
- Calling and annotating of sequence variants, including variant classification.
- Filtering strategies to identify pathogenic mutations in sequencing data.
- Approaches to determining pathogenicity of variants (population frequency, conservation of sequence, association with disease in established datasets, in silico tools and functional data).
- Use of databases (such as ClinVar, OMIM, Decipher, ExAC).
- Language appropriate to patients.
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 1 | Outcome Lead, under supervision, complex consultations involving genetic testing in complex scenarios, and consultations involving the use of genomic technologies. |