Competency information
Details
Identify and evaluate current state-of-the-art resources as appropriate.
Considerations
- Robust and reproducible mechanisms for recording literature searches.
- Computational disease resources such as OMIM, GeneReviews.
- Computational interactional resources for gene-gene, e.g. String.
- Tools for identifying pathways that are over-represented in gene lists.
- How to develop hypotheses around the potential phenotype of a mutation based on an analysis of the pathways and interactions in which it could participate.
- How to evaluate the literature around systems biology pathway modelling to improve understanding of genetic disease processes.
- How to determine the sensitivity of pathways to changes in gene function through the analysis of stability analyses.
- How to apply systems biology strategies to improve identification of disease-specific mutations from NGS data.
- Provision of strategic advice to clinical genetics service leaders in developing systems strategies for interpreting next generation and other large-scale sequencing data.
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 2 | Outcome Critically evaluate the literature and bioinformatic resources to identify biological pathways that play a role in a specific disease process e.g. host/pathogen interactions. |