University of Cambridge > Talks.cam > MRC Mitochondrial Biology Unit Seminars > Phenotype-based approaches to rare disease diagnostics and discovery in the 100,000 Genomes Project & Whole genome sequencing in suspected mitochondrial disorders

Phenotype-based approaches to rare disease diagnostics and discovery in the 100,000 Genomes Project & Whole genome sequencing in suspected mitochondrial disorders

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Professor Damian Smedley leads a Computational Genomics team at Queen Mary University London where his research focusses on the use of phenotype data to obtain novel insights into disease causes and mechanisms. His team is involved in translational aspects for a number of projects such as the International Mouse Phenotyping Consortium (IMPC). In collaboration with other members of the Monarch Initiative he has developed tools that utilise phenotype comparisons for candidate gene prioritisation, particularly for whole genome sequence interpretation of rare disease patients as in the Exomiser software suite. Prof. Smedley served as Director of Genomic Interpretation at Genomics England from 2016-2018 and has led the analysis of the impact of the 100,000 Genomes Project pilot on rare disease diagnosis in healthcare. In this talk he will describe this study on the 100,000 Genomes Project and the use of clinical phenotype data in particular.

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Dr Katherine Schon is a Clinical Geneticist who is doing a PhD about mitochondrial disorders in Professor Patrick Chinnery’s group. She will present results from the analysis of 319 families with suspected mitochondrial disorders who were recruited to the 100,000 Genomes Project.

This talk is part of the MRC Mitochondrial Biology Unit Seminars series.

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