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SUMMARY:Cancer Tumour/Normal Pair Analysis with the Illumina Genome Analyz
 er - Dirk Evers and Keira Cheetham  (Illumina Cambridge Ltd.)
DTSTART:20091005T150000Z
DTEND:20091005T160000Z
UID:TALK19722@talks.cam.ac.uk
CONTACT:Florian Markowetz
DESCRIPTION:The presentation will give an overview of Illumina’s high th
 roughput / high quality sequencing technology with the Genome Analyzer IIx
  system and software architecture. It will then illustrate algorithms in t
 he CASAVA Framework used to call structural variation events on genomes of
  all size ranges to ensure improved sensitivity and specificity. The remai
 nder will focus on results obtained with the new framework applied to Canc
 er research explained in more detail below.\n\nAccurate and rapid sequenci
 ng of individual human cancer genomes paves the way to discover the full c
 atalogue of somatic mutations that underlie the molecular basis of tumorig
 enesis. In collaboration with the Wellcome Trust Sanger Institute\, we hav
 e sequenced both tumour and normal genomes from a malignant melanoma cell 
 line\, with the aim of identifying somatic variants in the cancer sample. 
 The tumour and normal were sequenced on the Illumina Genome Analyzer II sy
 stem to 40x and 30x depth respectively.\n\nIn order to identify somatic ev
 ents\, we employed strict variant calling criteria in the tumour sample an
 d subtracted a more permissive set of variant calls from the normal\, iden
 tifying more than 30\,000 single base substitutions and other events such 
 as short indels\, structural variants and copy number changes. This study 
 illustrates the precision of somatic mutation detection in whole genome se
 quencing and the feasibility for large-scale studies to identify novel gen
 etic elements that are involved in tumorigenesis and may be used as diagno
 stic markers.  \n
LOCATION:Cancer Research UK Cambridge Research Institute\, Lecture Theatre
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