Bioinformatics Seminars

Bioinformatics Seminar

Time: 10:45am Tuesdays.
Level 7 Seminar Room 2, WEHI1

19 September 2017

Using targeted sequencing to find copy number variation, translocations and IgH receptor sequence in clinical myeloma samples

John Markham
WEHI Bioinformatics

We have developed a custom targeted sequencing panel of around 300 genes for use with haematological malignancies. The initial goal of the panel was to detect single nucleotide variants in commonly mutated genes but subsequently this has expanded to include detection of genome-wide copy number variation and pathogenic translocations in addition to the determination of B and T cell receptor sequences for assessment of clonality and repertoire. I will discuss how this is done and illustrate the issues involved using data from the first 100 myeloma patient samples to be analysed on the panel.

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