Alison Meynert Research Group (Affiliate)

Clinical Bioinformatics

Section: Biomedical Genomics

Research in a Nutshell

When the genes that drive normal biological function are mutated, they can either stop working or acquire new, potentially damaging functions. Genetic variation and mutation ranges in size from single base changes in DNA through to deletions and rearrangements of large chunks of the genome. Genomic sequencing gives researchers the data needed to identify these changes, but generating biomedical insights from sequencing data is far from trivial. Many projects now generate sequencing data for hundreds or thousands of samples, requiring specialised compute clusters, storage, and software, as well as teams of bioinformatics staff. I lead the IGC Bioinformatics Analysis Core developing robust and reproducible analysis pipelines that identify genetic variation and mutations in patients with rare diseases and cancer and link them to known biological functions and characteristics. These pipelines are used within the IGC for gene discovery research and within NHS Clinical Genetics Services for clinical screening and diagnostics.

Contact

Alison.meynert@ed.ac.uk

Collaborations

• Professor David FitzPatrick, University of Edinburgh

• Professor Charlie Gourley, University of Edinburgh

• Professor Colin Semple, University of Edinburgh

• Dr Catalina Vallejos, University of Edinburgh

• Dr Andrew Wood, University of Edinburgh