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In-silico validation of targets from somatic mutation screening

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Lay summary

Quotient is an early-stage drug discovery company. We developed the first ever technology platform to discover drug targets for many diseases with unmet medical need using somatic genomics, acquired changes in the DNA of cells during a person’s life.
We believe that Genomics England data will help us to validate target genes . Integrating rare disease and cancer information can help the evaluation and prioritisation of genes associated with common forms of disease. Our platform identifies genetic variants and genes under selection in disease. Genomics England dataset allows us to answer the questions; are variants and genes we discover also seen in Genomics England? If so, are the Genomics England variants and genes associated with a related disease?
We will also use these data to identify potential adverse events and the safety of our drug targets. Our goal is to combine rare disease, cancer, and common disease data to better understand the mechanisms driving common diseases. Strengthening the evidence of gene-disease associations will help us to better prioritise drug targets. Overall, we expect that this work will enable new insights into disease mechanism and therapeutic targets that could ultimately benefit patients.

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