Areas of Expertise
- Molecular Genetics
- Next Generation Sequencing (NGS)
- Human gene-variant and mutation analysis
- Malformations of cortical development
The module will cover the fundamental principles of informatics and bioinformatics applied to clinical genomics, find and use major genomic and genetic data resources; use software packages, in silico tools, databases and literature searches to align sequence data to the reference genome, critically assess, annotate and interpret findings from genetic and genomic analyses. Theoretical sessions will be coupled with practical assignments of analysing and annotating predefined data sets.
This module will provide an introduction to the clinical presentation and manifestations of rare inherited and common diseases, and considers the patient and family perspective with respect to the role and impact of genomics. It reviews traditional and current strategies and techniques used to identify genes responsible for both common multifactorial and rare inherited diseases.