This unit enables IMS researchers to obtain DNA libraries, sequence data, and analysis data quickly and at reasonable cost, thereby supporting users' research. For library preparation, we support whole-genome sequencing, whole-exome sequencing, targeted sequencing, CAGE, single-cell RNA-seq, and bulk RNA-seq. For sequencing, we accommodate runs on the Illumina NovaSeq 6000, NextSeq 2000, MiSeq, and PacBio Revio. Data analysis is available for whole genome sequencing, whole exome sequencing, targeted sequencing, CAGE, single-cell RNA-seq, bulk RNA-seq, ChIP-seq, ATAC-seq, and long-read sequencing analysis. We have introduced technologies such as the CAGE method and RamDA-seq―a single-cell RNA-seq method―developed at RIKEN and have established a technical support framework to facilitate the shared use of our facilities. In addition, we provide support for registering data in public databases.
　In collaboration with Dr. Murakawa, Team Director of the Laboratory for Gene Structure and Regulation, we have recently begun supporting the NET-CAGE method (Nature Genetics 51, 1369-1379 (2019)), which enables highly sensitive detection of enhancer activity through eRNA profiling. Furthermore, this unit has enhanced its data delivery framework by leveraging both the 'HOKUSAI SR' and 'HOKUSAI CalmLake' platforms. HOKUSAI CalmLake is a research-grade storage system that seamlessly integrates high-speed, long-term archiving for massive datasets with easy online data retrieval. This setup allows users to analyze data directly within the system, eliminating the need for local downloads. It also provides a stable environment for the permanent preservation of research data. Furthermore, we are committed to building data-sharing infrastructure and advancing data analysis technologies in collaboration with the Data Informatics Collaborative Project.
　To further advance IMS research, we introduced the AVITI24 and MiSeq i100 Plus systems in FY2025. The AVITI24 offers high-quality sequencing and cell profiling, while the MiSeq i100 Plus is designated for use in collaboration with the Spatial Omics Collaborative Project. Through the RIKEN Core Facilities Management System (R-COMS), we are ensuring that these resources are accessible to all RIKEN researchers. This unit offers comprehensive support ranging from library preparation and sequencing to data analysis using state-of-the-art NGS platforms.
　We contributed to the discovery that Helicobacter pylori infection synergistically increases gastric cancer risk in carriers of pathogenic DNA repair gene variants, a finding achieved through RIKEN’s original target analysis (N Engl J Med 388,1181-1190 (2023)). Furthermore, our single-cell RNA-seq analysis contributed to the characterization of Primitive Endoderm Stem Cells (PrESCs)―a novel pluripotent stem cell line in mice that serves as the precursor for extraembryonic tissues (Science 375, 574-578 (2022)). We also employed a multi-omics approach, integrating targeted sequencing and bulk RNA-seq, to help develop a dual-targeting therapy for XIAP and BCL2, offering a promising strategy to overcome refractory leukemia (Nat Cancer 2, 340-356 (2021)). We support cutting-edge research across the fields of intractable diseases, developmental biology, and oncology by delivering high-quality genomic data and expert analysis.