Human genome analysis

In 2015, the Japanese government established priority disease areas for the implementation of genomic information for actual medical practice. Rare (hereditary) diseases, cancer, dementia, infectious diseases, and pharmacogenomics were selected as the first priority areas because they were thought to be very close to being amenable to successful implementation of findings from basic research. Common multifactorial diseases such as diabetes and cardiovascular disease were positioned as the second priority disease areas, because they need further basic genomic research to precisely elucidate the relationships between genetic variants and diseases.

Different laboratories in IMS have analyzed various diseases by genome-wide association study and/or targeted- and whole-genome sequencing-based association studies: cancer (Momozawa & Nakagawa), pharmacogenomics (Mushiroda), bone & joint diseases (Ikegawa), diabetes (Horikoshi), cardiovascular diseases (Ito), autoimmune diseases (Yamamoto K), and integrated analysis of all common diseases (Kamatani). In addition, we integrated our results with knowledge of non-coding regions and single cell sequencing approaches being done by laboratories for the FANTOM and Human Cell Atlas projects to bettr understand the disease biology. We also have collaborations with large Japanese cohorts (BioBank Japan, Tohoku Medical Megabank, Japan Multi-Institutional Collaborative Cohort Study, and Japan Public Health Center-based Prospective Study) and various domestic and international universities, academic institutes, hospitals, and companies to implement personalized medicine.

figure of Genomic analyses reveal cell-type specific networks of complex traits

Figure: Genomic analyses reveal cell-type specific networks of complex traits

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