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SUMMARY:Allele specific expression design using short read DNA sequencing 
 and application to the genetics of autoimmune disorders - Vincent Plagnol 
 (UCL)
DTSTART:20110516T150000Z
DTEND:20110516T160000Z
UID:TALK28513@talks.cam.ac.uk
CONTACT:Florian Markowetz
DESCRIPTION:The widespread use of genome-wide association studies has enab
 led the\nidentification of a large number of disease associated genetic\nv
 ariants\, in particular for autoimmune disease like type 1 diabetes\nand c
 eliac disease. A key challenge is the design of functional assays\nto unde
 rstand the molecular role of these risk alleles. Taking RNA as\na first st
 ep\, the typical expression quantitative trait locus (eQTL)\nexperiment co
 rrelates gene expression with genotypes in large\ncollections of  samples.
  This design is not practical for samples that\nare difficult to collect o
 n a large scale such as brain tissue or\nactivated T cells. An alternative
  to measuring expression differences\nacross individuals is to compare the
  relative expression of both\nchromosomes within the same individual. This
  is the principle of the\nallele specific expression (ASE) design. Here\, 
 I describe how high\nthroughput DNA sequencing can improve the accuracy of
  ASE assays.\nHowever\, this process is challenging owing to the multiple 
 biases\nassociated with the sequencing step. Bioinformatic tools and\nstat
 istical methods need to be constructed to account for these\ndifficulties.
  I then apply this approach to analyze a set of\nautoimmune genes.\n\nHost
 ed by Ana-Teresa Maia
LOCATION:Cancer Research UK Cambridge Research Institute\, Lecture Theatre
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