Bioinformatic tool and resource analysis
Technological advances in genome sequencing have facilitated a greater understanding of the relationships between genotype and disease. Identification of large-scale changes within a gene are relatively easy to identify and associate with a disease phenotype. However, the consequences of small changes, for example missense variants or mutations in and around intron/exon boundaries, are much more difficult to assess in terms of their pathogenicity and therefore require more detailed analysis.
Clinical scientists assessing these genetic variations routinely use a number of different resources to interpret the mutations and their influence on disease. A number of in silico tools have been developed for assessing the impact of variants on the structure and function of the encoded protein as well as correct splicing. NGRL Manchester aims to provide information about the tools available and guidance on their appropriate use in clinical diagnostics.