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Bioinformatics for precision medicine

Many molecularly targeted drugs have been developed in recent years. This has brought about advances in personalized genome medicine (precision medicine), which involves prescribing molecularly targeted drugs based on detected gene mutations. With previous testing methods, it was usually only possible to detect one candidate mutation at one test; however, it would be ideal to test for all candidate mutations at one test. Clinical sequencing realizes this, using the next-generation sequencer. Because the next-generation sequencer produces a massive amount of data, bioinformatics plays an essential role in clinical sequencing (Reference: Japanese Journal of Cancer and Chemotherapy 2016, Vol. 43, 391-397, in Japanese).

At the National Cancer Center, doctors and scientists work together on the project of applying clinical sequencing to clinical practice (Reference). Our department is responsible for informatics, where we research on various bioinformatics challenges not encountered in basic research. For example, we are developing an algorithm to detect mutations using data obtained from formalin-fixed paraffin-embedded tissue samples. We are also developing medical information systems for use in clinical sequencing.