The third annual meeting of the Breast Cancer Somatic Genetics Study took place the the Wellcome Trust Conference Centre, Hinxton, Cambridge across two days from June 18th to 19th.

Over 40 participants took part and discussed a range of topics including sample collection, standard operating procedures, bioinformatics and the overall logistics of the project.

The Consortium has completed a number of investigative exercises into the experimental protocols and technological practises relating to whole genome sequencing, epigenetics and transcriptomics including:

  • Completion of extensive testing of current RNA-seq protocol.
  • Designed and implemented a new, improved RNA-seq protocol which utilises RNA samples regardless of their RNA Integrity Number.
  • Completed pilot testing of the Infinium 450k array and associated bi-sulfite sequencing.
  • Refined the whole genome sequencing library production protocols to produce more robust libraries.
  • Improved the primary variant-calling algorithms(for substitutions, insertions/deletions and rearrangements)
  • Developed new analytical algorithms to explore the resulting high-quality variants. As such, variant calling of whole genome sequencing data and secondary downstream analysis can begin in earnest in a trackable and automated fashion.

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