Aim 4

Maximising the clinical utility of genomic testing

The TGMI is generating methods, tools and datasets that can be used to benchmark and standardise genetic testing. With the majority of NHS genomic medicine centres now using the DECIPHER platform for clinical variant interpretation, a key objective of the TGMI is to develop the diagnostic utility of DECIPHER. In particular, we aim to display both individualised and aggregate data using tools that would enable clinical scientists and clinicians to rapidly review the existing causative genotypes that are associated with an individual G2P entry and toggle between the predicted consequences using the subset of clinically relevant transcripts.

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