Resources for genome interpretation and annotation
The Genome Interpretation team focuses on providing fundamental reference resources that underpin genomic research. Our areas of expertise are: adding value through manual annotation of the transcriptome and associated data; managing large volumes of variation data; and building software to interpret genomic variation.
The Human Genome Project generated a reference sequence that was a significant milestone in genomics, but only one in a series of steps toward the goal of personalised medical treatment. To realise the potential of genomics in this context, what is needed is an understanding of transcription and translation, alongside the ability to interpret the impact of genomic variation on phenotype and disease. Open access to catalogues of existing knowledge of genomic and variation annotation, and to tools for interpretation are fundamental for progress in biology, from basic research to translational genomics in the clinic. We build these and are globally recognised as world leaders via the free resources we provide, listed below.