Areas of Expertise
- Molecular Genetics
- Next Generation Sequencing (NGS)
- Human gene-variant and mutation analysis
- Malformations of cortical development
This module is designed to develop the skills required for students of genetics and medical genetics. Students will meet with tutors and be given a series of assignments designed to develop skills in key areas such as essay writing, presentations and general numeracy. Joint sessions will cover generic skills such as internet searching for scientific sources, referencing and plagiarism.
The aim of this module is to provide a capstone experience to students¿ learning, through participating in their own enquiry-based research project. Depending on the student's employability strand within the programme, the project may be laboratory, data, or education-based, but it will always involve a research question that is drawn from the literature, focused on a topic relevant to medical science. It will ask a novel research question and involve the critical analysis of research findings. Students will refine their oral and written communication skills to a graduate level through creating an introductory presentation on the project background, and a written dissertation and oral presentation on their research conclusions.
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.