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SUMMARY:CAGI: Critical Assessment of Genome Interpretation\, a community e
 xperiment to evaluate phenotype prediction - Professor John Moult: Institu
 te for Bioscience and Biotechnololgy Research\, University of Maryland
DTSTART:20140911T140000Z
DTEND:20140911T150000Z
UID:TALK53559@talks.cam.ac.uk
CONTACT:Sue Tennant
DESCRIPTION:CAGI is a community experiment to objectively assess computati
 onal methods for predicting the phenotypic impacts of genomic variation\, 
 particularly in areas relevant to human disease. The aim of the experiment
  is to define the state-of-the-art of genome interpretation\, both highlig
 hting innovation and identifying those bottlenecks that prevent the field 
 from advancing. In these experiments\, participants are invited to make bo
 na fide blinded predictions of disease-related phenotypes on the basis of 
 genomic data. \n\nThe variation data used in challenges mirror that encoun
 tered in current and imminent clinical practice\, with a focus on genomes\
 , exomes\, nonsynonymous SNPs\, splice-affecting SNPs\, and copy number va
 riation\, as well as additional data such as transcriptomes. Challenges pr
 obe the state of the art in identifying causative variants in rare Mendeli
 an diseases and estimating the risk of individuals having complex diseases
 \, such as Crohn’s. Cancer related variants form the basis of a substant
 ial fraction of the challenges\, relevant to the rapidly growing use of se
 quencing data for analysis and optimal treatment.  \n
LOCATION:Sackler Lecture Theatre\, Wellcome Trust/MRC Building\, Addenbroo
 ke's 
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