A break-through has occurred at the Genome Institute of Singapore (GIS). The scientists of this institute have developed a method called Variant Network (VarNet) that uses artificial intelligence (AI) to identify cancer mutations in DNA fragments within tumour samples. The development of personalized cancer treatments will be enhanced by this AI-based approach.

Identifying cancer at its earliest stage is crucial for tailoring effective treatments for individual cancer patients. According to their report, VarNet, a mutation caller, sifts through raw DNA sequencing data to detect mutations. Using deep learning, VarNet is trained to distinguish between real and false mutations, having been exposed to millions of real cancer mutations as well as examples of false ones. 

VarNet has been found to exceed existing mutation identification algorithms in terms of accuracy, according to research published in a peer-reviewed scientific journal. Unlike other AI-based methods, VarNet requires minimal human intervention. The AI system essentially teaches itself the rules of identifying mutations by processing data in a way that mimics the human brain.

The AI approach could significantly reduce the time-consuming task of identifying cancer mutations. A human expert would take much longer to analyze the entire three billion nucleotides of the human genome, whereas VarNet can perform the task in a fraction of the time.

The training data for VarNet was generated from over 300 normal and tumor genomes across seven cancer types. The source code for VarNet has been made available online to the international research community for further testing and use.

While AI methods like VarNet will not replace human doctors, they offer more accurate and detailed information to assist doctors in their decision-making process. The goal is to eventually move this technology into clinics to improve treatment strategies for cancer patients.

Cancer is the leading cause of death in Singapore, accounting for nearly 24% of all deaths in 2022. The development of advanced techniques like VarNet has the potential to make a significant impact in the field of cancer treatment.

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