Using Exomiser for rare disease variant interpretation at scale in the 100,000 Genomes Project

ASHG 2018 Annual Meeting – research using mouse models

Damian Smedley will give a talk on Wednesday from 9:30am to 9:45am in Ballroom 20A

The 100,000 Genomes Project is applying whole genome sequencing in a diagnostic setting to rare disease and cancer patients from the National Health Service (NHS) of the UK. Damian Smedley will describe how the clinical phenotype data collected on each rare disease patient is used in automated variant prioritisation software (Exomiser) to identify 68%, 78% or 81% of diagnoses in the top 1, 3 and 5 matches respectively. This software takes advantage of a number of reference disease and model organism genotype to phenotype databases including the International Mouse Phenotyping Consortium (IMPC).



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