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SUMMARY:Phenotype-based approaches to rare disease diagnostics and discove
 ry in the 100\,000 Genomes Project &amp\; Whole genome sequencing in suspe
 cted mitochondrial disorders - Professor Damian Smedley &amp\; Dr Katherin
 e Schon
DTSTART:20220713T140000Z
DTEND:20220713T150000Z
UID:TALK176228@talks.cam.ac.uk
CONTACT:Hannah Burns
DESCRIPTION:Professor Damian Smedley leads a Computational Genomics team a
 t Queen Mary University London where his research focusses on the use of p
 henotype data to obtain novel insights into disease causes and mechanisms.
  His team is involved in translational aspects for a number of projects su
 ch as the International Mouse Phenotyping Consortium (IMPC). In collaborat
 ion with other members of the Monarch Initiative he has developed tools th
 at utilise phenotype comparisons for candidate gene prioritisation\, parti
 cularly for whole genome sequence interpretation of rare disease patients 
 as in the Exomiser software suite. Prof. Smedley served as Director of Gen
 omic Interpretation at Genomics England from 2016-2018 and has led the ana
 lysis 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 1
 00\,000 Genomes Project and the use of clinical phenotype data in particul
 ar.\n\n______________________________________________________\n\nDr Kather
 ine Schon is a Clinical Geneticist who is doing a PhD about mitochondrial 
 disorders in Professor Patrick Chinnery’s group.  She will present resul
 ts from the analysis of 319 families with suspected mitochondrial disorder
 s who were recruited to the 100\,000 Genomes Project. 
LOCATION:Contact organiser for details
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