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SUMMARY:[TMS Symposium] Mutations in Developmental Disorders - Patrick Sho
 rt
DTSTART:20160221T141500Z
DTEND:20160221T144500Z
UID:TALK64758@talks.cam.ac.uk
CONTACT:Jason Kwong
DESCRIPTION:The majority of children with severe developmental disorders r
 emain without a genetic diagnosis.\nFamilies often describe the road to re
 aching a diagnosis as an 'odyssey' lasting years and involving\ndozens of 
 different medical professionals. The Deciphering Developmental Disorders (
 DDD) study\nhas collected detailed clinical phenotypes and genome sequence
  data from 14\,000 children with\nundiagnosed developmental disorders and 
 their parents as an effort to quickly and definitively reach a\ngenetic di
 agnosis.\nUsing data from the first 4\,000 DDD patients\, my computational
  analyses have already\ngenerated hypotheses relating to specific variants
  in individual genomic functional elements. This work\nwill contribute to 
 an improved understanding of the role of the regulatory genome in developm
 ental\ndisorders and provides a scalable model for the interpretation of n
 on-coding elements in rare disease\ncohorts.\n
LOCATION:Winstanley Lecture Theatre\, Trinity College
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