Accumulation of structural variations (SVs) across the genome is a known trigger factor for oncogenesis. Structural mutations have been clearly implicated in a number of cancers, most notably translocations that result in druggable fusions involving genes such as NTRK, MPRSS2, RET, FGFR3, ALK, and ESR1. Identifying these structural genomic alterations - accurately and comprehensively - is crucial for improving research and ultimately therapies for cancer patients, yet one of primary challenges when solely relied on short read sequencing and chromosomal microarrays
Professor Vanessa Hayes, Garvan institute of Medical Research
Dr Yingying Wu, Scientific Affairs Manager, Bionano Genomics
I-Mei Siu
Senior Editor, Cancer Discovery
Part 1 Precision Oncology: Bringing Omics into Cancer Clinical Practice
Part 2: Somatic Reference Standards
Sharon (Xiaoxia) Song
MGI Tech
Sharon is the Field Application Specialist at MGI Tech Australia, with a commitment to dedicate her knowledge and skills to assist MGI’s local Australian clients. She was previously Microarray Manager of the Australian Translational Genomics Centre.
Precision Oncology: Bringing Omics into Cancer Clinical Practice
Over the past few years, the rapid development of innovative sequencing technology has enabled our understanding of cancer to the genetic, molecular and dynamic morphological changes. This technology not only lays the foundation for the emergence of targeted treatment of cancer, but also makes it possible to achieve“Deliver the right prescription to the right patient at the right time”in the clinic. This workshop will focus on the effective application of sequencing technology and integrated analysis of genome, transcriptome, methylation, and single-cell RNA-seq in cancer research. Furthermore, from the scientific findings to improving cancer therapies and clinical care, we will present some of clinical practices in cancer prevention, diagnosis, stratification, treatment and monitoring.
Liam McIntyre
QIMR Berghofer Medical Research Institute
Liam is an organism/disease agnostic bioinformatician with expertise pertaining to NGS, having worked on human germline and somatic diseases, infectious diseases and even the wheat genome. In his current role he has developed a somatic reference standard for pipeline validation and is the technical lead on applying Oxford Nanopore Technologies to paired tumour normal WGS analysis.
Somatic Reference Standards
Cancer genomics is paving the way for genomic-guided precision medicine whereby treatments are selected based on a patient’s germline and tumour genomic information. Short paired read whole genome sequencing (WGS) has been the enabling technology to date. The fidelity of WGS analysis can be gauged by a known truth set of variants. The Genome In A Bottle Consortium has generated a powerful germline resource with known variants reported across the genome for a number of publicly‑assessable cell lines. In contrast, the availability of whole genome germline and matched tumour samples with known somatic mutations is lacking. Here, we present two somatic consensus truth sets for the publicly available cell lines COLO829 and HCC1937. For COLO829 – a melanoma cell line – we sequenced 6 technical replicates (Illumina, n=3; BGI, n=3) and matched germline. The breast cancer cell line, HCC1937, was selected to compliment COLO829 due to its high level of structural variation, 4 technical replicates were sequenced (Illumina, n=3; BGI, n=1). Further, one technical replicate of each cell line has been long read sequenced using Oxford Nanopore Technology and the work to date will be discussed.
Flash Talk Poster
Cep55 loss impedes tumorigenesis in vivo - Behnam Rashidieh