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Phenotype-based prioritisation of variants with Exomiser

In this talk, Damian describes a phenotype-based approach to rare disease variant prioritisation and how Exomiser is used in Genomic England’s 100,000 Genomes Project pipeline to automatically detect 75% and 84% of SNV/indel diagnoses in the top and top 3 hits respectively. As well as highlighting upcoming features such as structural variant prioritisation, Damian covers the work of the team to maximise Exomiser’s utility within Congenica and develop a new, cloud-based service.

Damian Smedley

Reader in Computational Genomics Queen Mary University of London


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