Genomic tools for diagnosis of the presence of a solid tumour and for prediction of tumour subtype and likely treatment response from circulating tumour DNA
Professor Lachlan Coin
We are developing genomic and bioinformatics tools for tumour detection and profiling from circulating tumour DNA present in the blood in multiple cancers. We have already developed bioinformatics algorithms for accurate copy number and loss-of-heterozygosity profiling in tumours with as little as 10% cellularity. We have also successfully applied these tools to publicly available datasets consisting of DNA extracted from blood plasma (containing an estimated 20-30% of circulating tumour DNA); normal cellular DNA, primary tumour DNA and metastatic tumour DNA, indicating the applicability of this tool to characterising copy number alterations in circulating tumour DNA.
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