Bioinformatics Seminar
Time:
Venue: Na
26 November 2019
NaGRIDSS
Daniel CameronWEHI Bioinformatics
PURPLE ; LINX: Unscrambling the tumour genome via integrated analysis of structural variation and copy number;Copy number alteration (CNA) and structural variation (SV) are two of the key classes of somatic mutations in cancer ; with approximately 90% of tumours undergoing significant rearrangement. Despite the critical and interrelated role of SV and CNA in tumorigenesis ; they are typically analysed independently. Here I will present a novel ; integrated and comprehensive toolkit combining GRIDSS for somatic structural variant calling ; PURPLE for somatic copy number alteration ; and LINX for interpretation and higher order classification of genomic rearrangements. Using the 4 ;000+ WGS metastatic tumour samples in the Hartwig Medical Foundation cohort ; I will demonstrate the power of this integrated approach both for clinical patient reporting and for our understanding of the landscape of genomic rearrangements in cancer.;Actual Venue : Davis Auditorium