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SUMMARY:The bioinformatics for the UK’s 100\,000 Genomes Project - Dr Au
 gusto Rendon\, Director of Bioinformatics and Genome Analysis\, Genomics E
 ngland
DTSTART:20170531T120000Z
DTEND:20170531T130000Z
UID:TALK72897@talks.cam.ac.uk
CONTACT:48007
DESCRIPTION:In this talk I will give an overview of the UK’s 100\,000 ge
 nomes project and its current status. I will then focus on two mayor areas
  from a bioinformatics perspective: data challenges and interpretation in 
 rare diseases. I will discuss how three types of databases are required to
  enhance genome interpretation and enable research: a large-scale database
  of genotypes and phenotypes\, a database of interpretation findings and a
  database of genotype to phenotype assertions. I will present the developm
 ents we have performed in these areas and discuss some of the remaining ch
 allenges. I will then discuss the work we have been doing to support diagn
 osis in families with rare diseases. I hope that I will be able to convey 
 the immense potential this program has for translating state of the art re
 search into improved patient care and encourage people to join our clinica
 l and academic partnerships.
LOCATION:Seminar Room\, Strangeways Research Laboratory\, Worts Causeway\,
  CB18RN
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