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About NBDC Human Database
An enormous amount of human data is being generated with advances in next-generation sequencing and other analytical technologies. We therefore need rules and mechanisms for organizing and storing such data and for effectively utilizing them to make progress in the life sciences.
To promote sharing and utilization of human data while considering the protection of personal information, the Database Center for Life Science (DBCLS) of the Joint Support-Center for Data Science Research, Research Organization of Information and Systems (ROIS-DS) created a platform for sharing various data generated from human specimens, which are available for publicly access in cooperation with the DNA Data Bank of Japan
.
You can apply to use or submit human data through this website.
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NBDC Research ID: hum0030.v5
Aims: To clarify the biological difference between clear cell carcinoma and other histological subtypes in ovarian carcinomas by comparing copy number variants, and to identify molecular subtypes and carcinogenesis in clear cell ovarian carcinomas by whole-exome sequencing and RNA-sequencing. Then, characterize high-grade serous carcinomas by NGS-based, integrative genomic analyses, with focus on homologous recombination deficiency, molecular subtypes, and prognostic factors and effectiveness of PARP inhibitor. Based on the results of whole-exome sequencing, an investigator-initiated, phase 2 clinical trial will be conducted to evaluate the efficacy and safety of the PARP inhibitor olaparib in HRD-positive cases.
Understanding the immune regulatory mechanisms in endometrial cancer is crucial for improving immunotherapy strategies. To elucidate the relationship between the tumor immune microenvironment and HLA class I expression, with a particular focus on their impact on CD8+ T cell infiltration patterns. By investigating the molecular basis of immune evasion across different histological and molecular subtypes, we will generate evidence that will contribute to the development of personalized immunotherapy strategies.
Methods:
Copy Number Variation Analysis: Gene Chip Human Mapping 250K Nsp Arrays were used for detecting the signal intensity of about 260 thousands SNPs and intensities of ovarian clear cell carcinoma were compared to the ones of non-carcinoma.
Whole Exome sequencing and RNA-seq
Methylation array and Expression array
Target bisulfite sequencing
Participants/Materials: Ovarian cancer: 57 cases (12 endometrioid carcinoma) + 111 cases + 31 + 189 cases, Endometrial cancer: 86 cases
| Dataset ID | Type of Data | Criteria | Release Date |
|---|---|---|---|
| JGAS000022 | Copy Number Variations in cancer genome | Controlled-access (Type I) | 2015/04/21 |
| JGAS000560 | NGS (Exome, RNA-seq) | Controlled-access (Type I) | 2024/05/10 |
| JGAS000560 (Data addition) | Methylation array, Expression array | Controlled-access (Type I) | 2024/07/05 |
| JGAS000789 | NGS (Exome) | Controlled-access (Type I) | 2025/07/01 |
| JGAS000897 | NGS (Target bisulfite-seq) | Controlled-access (Type I) | 2026/04/22 |
* Data users need to apply an application for Using NBDC Human Data to reach the Controlled-access Data. Learn more
| Participants/Materials: |
Surgical samples were obtained from 57 patients (31 clear cell carcinomas, 14 serous adenocarcinomas, and 12 endometrioid adenocarcinomas) |
| Targets | genome wide CNVs |
| Target Loci for Capture Methods |
- |
| Platform | Affymetrix [GeneChip Human Mapping 250K Nsp Array] |
| Source | gDNAs extracted from ovarian cancer cells and peripheral blood cells |
| Cell Lines | - |
| Library Construction (kit name) | GeneChip Human Mapping 250K Nsp Array |
| Algorithm for detecting CNVs (software) | genome imbalance map (GIM) algorithm (doi:10.1016/j.bbrc.2005.06.040) |
| CNV number | 262,264 CNVs |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD000022 |
| Total Data Volume | 17.5 GB |
| Comments (Policies) | NBDC policy |
| Participants/Materials |
High-grade serous ovarian carcinoma (ICD10: C56.12): 78 cases (tumor tissue: 82 samples, non-tumor tissue: 78 samples) Ovarian clear cell adenocarcinoma (ICD10: C56.14): 78 cases (tumor tissue: 78 samples, non-tumor tissue: 78 samples) |
| Targets | Exome |
| Target Loci for Capture Methods | - |
| Platform | Illumina [HiSeq 2000] |
| Library Source | DNAs extracted from tumor tissues and non-tumor tissues (peripheral blood cells) |
| Cell Lines | - |
| Library Construction (kit name) | SureSelect Human All Exon kit v4, SureSelect Human All Exon kit v5 |
| Fragmentation Methods | Ultrasonic fragmentation (Covaris) |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 100 bp x 2 |
| Mapping Methods | BWA, Novoalign |
| Mapping Quality | MAPQ>20 |
| Reference Genome Sequence | hg19 |
| Coverage (Depth) | tumor 115.6, normal 108.4 |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD000682 |
| Total Data Volume | 5.6 TB (fastq, bam) |
| Comments (Policies) | NBDC policy |
| Participants/Materials |
High-grade serous ovarian carcinoma (ICD10: C56.12): 77 cases (tumor tissue: 77 samples) |
| Targets | RNA-seq |
| Target Loci for Capture Methods | - |
| Platform | Illumina [HiSeq 2000] |
| Library Source | RNAs extracted from tumor tissues |
| Cell Lines | - |
| Library Construction (kit name) | TruSeq Stranded mRNA LT Sample Prep Kit |
| Fragmentation Methods | Including library prep kit protocol |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 100 bp x 2 |
| Mapping Methods | STAR (V.2.5.2a) |
| Mapping Quality | MAPQ>20 |
| Reference Genome Sequence | hg19 |
| Detecting method for read count (software) | Cufflinks (v2.1.1) |
| QC Methods | - |
| Gene Number | 38,515 genes |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD000682 |
| Total Data Volume | 5.6 TB (fastq, bam, csv [FPKM]) |
| Comments (Policies) | NBDC policy |
| Participants/Materials: |
High-grade serous ovarian carcinoma (ICD10: C56.12): 97 cases (tumor tissue: 92 samples, non-tumor tissue: 5 samples) Ovarian clear cell adenocarcinoma (ICD10: C56.14): 85 cases (tumor tissue: 82 samples, non-tumor tissue: 3 samples) |
| Targets | Methylation array |
| Target Loci for Capture Methods |
- |
| Platform | Illumina [Infinium HumanMethylation450 BeadChip] |
| Source | DNAs extracted from tumor tissues and non-tumor tissues (peripheral blood cells) |
| Cell Lines | - |
| Library Construction (kit name) | Infinium HumanMethylation450 BeadChip |
| Algorithms for Calculating Methylation-rate (software) | Genome Studio |
| Filtering Methods | - |
| Normalization of methylation array | Following the standard protocol of Genome Studio |
| Probe Number | 485577 |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD000682 |
| Total Data Volume | 2.9 GB (txt) |
| Comments (Policies) | NBDC policy |
| Participants/Materials: |
Ovarian clear cell adenocarcinoma (ICD10: C56.14): 89 cases (tumor tissue: 89 samples) |
| Targets | Expression array |
| Target Loci for Capture Methods |
- |
| Platform | Affymetrix [GeneChip® Human Genome U133 Plus 2.0 Array] |
| Source | RNAs extracted from tumor tissues |
| Cell Lines | - |
| Library Construction (kit name) | GeneChip® 3’ IVT Express Kit |
| Filtering Methods | - |
| Analysis Software | GeneChip® Operating Software (GCOS, Affymetrix) |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD000682 |
| Total Data Volume | 2.9 GB (CEL) |
| Comments (Policies) | NBDC policy |
| Participants/Materials |
Ovarian cancer (ICD10: C56, D391): 189 cases (tumor tissue: 190, non-tumor tissue: 189) Ovarian High-Grade Serous Carcinoma: 161 cases (tumor tissue: 162, non-tumor tissue 161) Ovarian Endometrioid Carcinoma: 5 cases (tumor tissue: 5, non-tumor tissue 5) Ovarian Carcinosarcoma: 2 cases (tumor tissue: 2, non-tumor tissue 2) Ovarian De-differentiated Carcinoma: 2 cases (tumor tissue: 2, non-tumor tissue 2) Ovarian Clear Cell Carcinoma: 10 cases (tumor tissue: 10, non-tumor tissue 10) Ovarian Metastatic Tumors: 4 cases (tumor tissue: 4, non-tumor tissue 4) Ovarian Borderline Tumors: 2 cases (tumor tissue: 2, non-tumor tissue 2) Ovarian Mucinous Carcinoma/Borderline: 3 cases (tumor tissue: 3, non-tumor tissue 3) Ovarian Low-Grade Serous Carcinoma: 1 case (tumor tissue: 1, non-tumor tissue 1) |
| Targets | Exome |
| Target Loci for Capture Methods | - |
| Platform | Illumina [NextSeq 500] |
| Library Source | DNAs extracted from tumor tissues and non-tumor tissues (peripheral blood cells) |
| Cell Lines | - |
| Library Construction (kit name) | Custom-made probes were designed to hybridize and capture the genomic DNA of the target genes of 4327 single nucleotide polymorphisms within the targeted gene regions. |
| Fragmentation Methods | - |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 150 bp x 2 |
| Mapping Methods | BWA, Novoalign |
| Mapping Quality | MAPQ>20 |
| Reference Genome Sequence | hg38 |
| Coverage (Depth) | tumor 152.0, normal 81.5 |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD000931 |
| Total Data Volume | 6.4 TB (fastq, bam) |
| Comments (Policies) | NBDC policy |
| Participants/Materials |
Endometrial cancer (ICD10: C549): 86 cases tumor tissue (frozen uterine corpus): 86 samples |
| Targets | Target bisulfite sequencing |
| Target Loci for Capture Methods | HLA-A (chr6:29,943,268-29,943,632) |
| Platform | Illumina [MiSeq] |
| Library Source | DNAs extracted from tumor tissues |
| Cell Lines | - |
| Library Construction (kit name) | NEBNext Ultra II DNA Library Prep Kit for Illumina |
| Fragmentation Methods | PCR |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 251 bp |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD001041 |
| Total Data Volume | 1.7 GB (fastq) |
| Comments (Policies) | NBDC policy |
Principal Investigator: Katsutoshi Oda
Affiliation: Department of Obstetrics and Gynecology, Faculty of Medicine, The University of Tokyo
Project / Group Name: -
Funds / Grants (Research Project Number):
| Name | Title | Project Number |
|---|---|---|
|
KAKENHI Grant-in-Aid for Scientific Research (S) |
An Integrated Genomic Analysis on Evolution of Cancer Cell Population |
24221011 |
|
KAKENHI Grant-in-Aid for Scientific Research (C) |
Search for the New Molecular Targeted Therapies and Biomarkers Inducing Apoptosis in Endometrial Carcinoma and Ovarian Carcinoma |
26462515 |
|
KAKENHI Grant-in-Aid for Young Scientists (B) |
Search for the New Molecular Targeted Therapies Based on Genetic Profiles of Ovarian Clear Cell Carcinoma |
25861473 |
|
Project for Development of Innovative Research on Cancer Therapeutics (P-DIRECT) |
Development of the Intractable Cancer Therapies through the New Target Identification by the Molecular Profiling (The Identification of the Gene Variation to Regulate the Treatment Sensitivity of the Progressive Ovarian Cancer) |
11114014 |
| KAKENHI Grant-in-Aid for Young Scientists (B) | Carcinogenesis and Disorder of SWI/SNF Chromatin Remodeling Complex in Ovarian Clear Cell Carcinoma | 22K16873 |
| KAKENHI Grant-in-Aid for Scientific Research (C) | Investigation of Novel Molecularly Targeted Therapies Focusing on Homologous Recombination Repair Defeciency in Ovarian Cancer | 18K09249 |
| KAKENHI Grant-in-Aid for Scientific Research (B) | Clinical utility of genetic analysis and organoid-based drug sensitivity testing in ovarian cancer. | 21H03074 |
| KAKENHI Grant-in-Aid for Scientific Research (B) | Development of a Drug-Sensitive Methylation Diagnostic Kit and Application to Liquid Biopsy for Ovarian/Uterine Cancer | 24K02584 |
| Title | DOI | Dataset ID | |
|---|---|---|---|
| 1 | Integrated Copy Number and Expression Analysis Identifies Profiles of Whole-Arm Chromosomal Alterations and Subgroups with Favorable Outcome in Ovarian Clear Cell Carcinomas | doi: 10.1371/journal.pone.0128066 | JGAD000022 JGAD000682 |
| 2 | The frequency of neoantigens per somatic mutation rather than overall mutational load or number of predicted neoantigens per se is a prognostic factor in ovarian clear cell carcinoma | doi: 10.1080/2162402X.2017.1338996 | JGAD000682 |
| 3 | Neoantigen load and HLA-class I expression identify a subgroup of tumors with a T-cell-inflamed phenotype and favorable prognosis in homologous recombination-proficient high-grade serous ovarian carcinoma | doi: 10.1136/jitc-2019-000375 | JGAD000682 |
| 4 | Integrated genomic/epigenomic analysis stratifies subtypes of clear cell ovarian carcinoma, highlighting their cellular origin | doi: 10.1038/s41598-024-69796-4 | JGAD000682 |
| 5 | HLA class I dysregulation and immune microenvironment across endometrial cancer molecular subtypes | JGAD001041 |
| Principal Investigator | Affiliation | Country/Region | Research Title | Data in Use (Dataset ID) | Period of Data Use |
|---|---|---|---|---|---|
| Ikuo Konishi | Kyoto University | JGAD000022 | 2015/07/13-2017/03/31 | ||
| Masaki Mandai | Kyoto University Faculty of Medicene, department of Gynecology and Obstetrics | Integrated analyses of omics (genomics, transcriptomics, proteomics and metabolomics) associated with clinical variables for developing indivisualizedtreatment in gynecological malignancy | JGAD000022 | 2018/10/04-2025/03/31 | |
| Noriomi Matsumura | Department of Obstetrics and Gynecology, Faculty of Medicine, Kindai University | Japan | Integrated multi-omics analysis for ovarian clear cell adenocarcinoma: JGOG3017-TR1 | JGAD000022, JGAD000682 | 2024/10/15-2027/12/31 |
| Ken Yamaguchi | Gynecology and Obstetrics, Graduate School of Medicine and Faculty of Medicine, Kyoto University | Japan | Integrated multi-omics analysis for ovarian clear cell adenocarcinoma: JGOG3017-TR1 | JGAD000022, JGAD000682 | 2024/10/22-2027/12/31 |
| Ryusuke Murakami | Gynecology and Obstetrics, Graduate School of Medicine and Faculty of Medicine, Kyoto University | Japan | Integrated multi-omics analysis for ovarian clear cell adenocarcinoma: JGOG3017-TR1 | JGAD000931 | 2025/09/26-2027/12/31 |
| Noriomi Matsumura | Department of Obstetrics and Gynecology, Faculty of Medicine, Kindai University | Japan | Integrated multi-omics analysis for ovarian clear cell adenocarcinoma: JGOG3017-TR1 | JGAD000931 | 2025/09/29-2027/12/31 |
hum0030 Release Note
| Research ID | Release Date | Type of Data |
|---|---|---|
| hum0030.v5 | 2026/04/22 | NGS (Target bisulfite-seq) |
| hum0030.v4 | 2025/07/01 | NGS (Exome) |
| hum0030.v3 | 2024/07/05 | Methylation array, Expression array |
| hum0030.v2 | 2024/05/10 | NGS (Exome, RNA-seq) |
| hum0030.v1 | 2015/04/21 | CNV analysis using 57 ovarian carcinoma patients |
DNAs extracted from tumor tissues of 86 endometrial cancer patients were used for the HLA-A region targeted bisulfite sequencing analysis. Fastq files are provided.
DNAs extracted from tumor and non-tumor tissues of 189 ovarian cancer patients were used for the whole exome sequencing analyses. Fastq and bam files are provided.
DNAs/RNAs extracted from tumor and non-tumor tissues of high-grade serous ovarian carcinoma or ovarian clear cell adenocarcinoma patients were used for the methylation array and expression array analyses. Txt and CEL files are provided.
DNAs/RNAs extracted from tumor and non-tumor tissues of high-grade serous ovarian carcinoma or ovarian clear cell adenocarcinoma patients were used for the whole exome sequencing and RNA sequencing analyses. Fastq, bam, and csv files are provided.
Signal intensities for 260K CNVs of 57 ovarian carcinomas were decided by using of GeneChip Human Mapping 250K Nsp Arrays (Affymetrix) (CEL files).
Note:
hum0201 Release Note
| Research ID | Release Date | Type of Data |
|---|---|---|
| hum0201.v9 | 2026/04/21 | NGS (Exome, RNA-seq) |
| hum0201.v8 | 2024/08/28 | NGS (Exome, RNA-seq, scRNA-seq, ATAC-seq, ChIP-seq) |
| hum0201.v7 | 2022/12/27 | Processed data of JGAD000335 by JGA |
| hum0201.v6 | 2022/08/05 | NGS (scRNA-seq, RNA-seq, Exome) |
| hum0201.v5 | 2022/06/06 | NGS (RNA-seq) |
| hum0201.v4 | 2021/11/19 | NGS (RNA-seq, ChIP-seq) |
| hum0201.v3 | 2020/11/20 | NGS (RNA-seq) |
| hum0201.v2 | 2020/10/06 | NGS (WGS, RNA-seq) |
| hum0201.v1 | 2019/12/20 | NGS (Exome) |
DNAs/RNAs extracted from organoids established from normal and tumor tissues of the patients with colon cancer, duodenal adenoma and stomach cancer or a healthy individual or genetically engineered organoids were used for the whole exome and RNA sequencing analyses. Fastq files are provided.
DNAs/RNAs extracted from pancreatic cancer organoids or genetically engineered pancreatic duct organoids were used for the whole exome, RNA, scRNA, ATAC and ChIP sequencing analyses. Fastq and bed files are provided.
The alignment results [CRAM], variant call results per sample [gVCF], and variant call results per dataset [aggregated VCF] processed JGAD000335 in a certain workflow were provided. If you plan to use the data, please indicate both original data (JGAD000335) and processed data (JGAD000687) on the application form for data use.
RNAs extracted from normal colonic tissue from a neoplastic disease patient was used for the single cell RNA sequencing analysis. DNAs and RNAs extracted from organoids established from healthy normal colonic tissues of the patients were used for the whole genome and RNA sequencing analyses. Fastq files are provided.
RNAs extracted from organoids derived from colon cancer tissues from neoplastic disease patients were used for the RNA sequencing analysis. Fastq files are provided.
DNAs and RNAs extracted from organoids established from colon cancer tissues and a normal epithelial tissue of the patients were used for RNA sequencing and ChIP-seq analyses. Fastq files are provided.
Gene expression of 2D normal duodenum organoids with or without medium rotation was analyzed. Total RNA was extracted from organoids with or without a four-day medium rotation, and after 0, 1, 2 or 4 days of medium rotation, and sequenced with HiSeq X Ten. Fastq files are provided.
DNAs and RNAs extracted from peripheral blood cells and organoids established from normal and cancer tissues of the patients were used for the whole genome and RNA sequencing analysis. Fastq files are provided.
DNAs extracted from inflammatory/tumor tissues from gastrointestinal inflammatory disease patients, peripheral blood cells from patients/controls, and the organoids established from epithelial tissues from patients were used for the whole exome sequencing analysis. Fastq files are provided.
Note:
NBDC Research ID: hum0201.v9
Aims: Search for differences in genomics and traits among normal cells, digestive non-tumor cells (inflammatory cells), and tumor cells
Methods:
JGAS000199: The organoids were established from epithelial tissues from patients, and cultured. DNAs were extracted from the organoids and peripheral blood cells. Whole exome sequencing analysis was performed to identify the somatic mutations.
JGAS000237: Organoids were established from tissue samples (normal and cancer) obtained from any cancer patients. The organoids were cultured, and DNA / RNA was extracted from the organoids for whole genome / RNA sequencing analysis to identify the somatic mutations. Blood samples were substituted when normal tissue samples were not available.
JGAS000256: RNA was extracted from the 2D-cultured normal duodenal organoids with or without medium rotation. RNA sequencing was performed to identify the changes in gene expression after culture medium rotation.
JGAS000378: RNA sequencing and Chip-seq analysis for the organoids derived from colon cancer tissues and a normal epithelial tissue from patients
JGAS000350: RNA sequencing analysis for the organoids derived from colon cancer tissues
JGAS000550: single cell RNA sequencing analysis for normal colonic tissue and RNA sequencing or Whole Exome sequencing analyses for the organoids derived from healthy normal colonic tissues in the neoplastic disease patient
JGAS000719: Organoids were derived from surgically resected specimens, endoscopic ultrasound-guided fine needle aspiration samples, brushing samples, pleural effusion, and ascites of patients with pancreatic cancer. Genetically engineered human pancreatic duct organoids were made by introducing cancer gene mutations in duct organoids using CRISPR-Cas9. DNAs/RNAs were extracted from the organoids for whole exome sequencing, RNA sequencing, single cell RNA sequencing, ATAC sequencing, and ChIP sequencing analyses.
JGAS000881: Organoids were established from the tumor and normal counterpart of patients with duodenal tumor. Also, organoids were established from healthy ileum, colon or duodenum of patients with colon cancer, stomach cancer or a healthy individual and were further genetically engineered with CRISPR-Cas9. DNAs/RNAs were extracted from the organoids for whole exome sequencing and RNA sequencing analyses.
Participants/Materials:
JGAS000199: Controls who underwent colonoscopy, gastrointestinal inflammatory disease patients, and neoplastic disease patients
JGAS000237: Neoplastic disease patients
JGAS000256: Normal duodenum tissue from a neoplastic disease patient
JGAS000378: Colon cancer tissues and a normal epithelial tissue from neoplastic disease patients
JGAS000350: Neoplastic disease patient
JGAS000550: Neoplastic disease patient
JGAS000719: Pancreatic cancer patients
JGAS000881: Colon cancer patients, duodenal adenoma patients, a stomach cancer patient and a healthy individual
| Dataset ID | Type of Data | Criteria | Release Date |
|---|---|---|---|
| JGAS000199 | NGS (Exome) | Controlled-access (Type I) | 2019/12/20 |
| JGAS000237 | NGS (WGS, RNA-seq) | Controlled-access (Type I) | 2020/10/06 |
| JGAS000256 | NGS (RNA-seq) | Controlled-access (Type I) | 2020/11/20 |
| JGAS000378 | NGS (RNA-seq, ChIP-seq) | Controlled-access (Type I) | 2021/11/19 |
| JGAS000350 | NGS (RNA-seq) | Controlled-access (Type I) | 2022/06/06 |
| JGAS000550 | NGS (scRNA-seq, RNA-seq, Exome) | Controlled-access (Type I) | 2022/08/05 |
| JGAD000687 | Processed data of JGAD000335 by JGA | Controlled-access (Type I) | 2022/12/27 |
| JGAS000719 | NGS(Exome, RNA-seq, scRNA-seq, ATAC-seq, ChIP-seq) | Controlled-access (Type I) | 2024/08/28 |
| JGAS000881 | NGS(Exome, RNA-seq) | Controlled-access (Type I) | 2026/04/21 |
*Data users need to apply an application for Using NBDC Human Data to reach the Controlled-access Data. Learn more
Exome (JGAS000199/JGAS000550/JGAS000719)
| Participants/Materials |
gastrointestinal inflammatory disease (ICD10: K51): 29 cases gastrointestinal inflammatory disease with neoplastic disease (ICD10: K51, C18, C19, C20): 26 cases organoids derived from healthy normal colonic tissues with neoplastic disease (ICD10: C18): 2 cases controls who underwent colonoscopy: 16 individuals pancreatic cancer (ICD10: C25): 50 cases (organoids derived from tumor tissues) |
| Targets | Exome |
| Target Loci for Capture Methods | - |
| Platform | Illumina [HiSeq 2500/4000, NovaSeq6000] |
| Library Source | DNAs extracted from peripheral blood cells and organoids established from normal or inflammatory/tumor tissues of the patients or controls |
| Cell Lines | - |
| Library Construction (kit name) | SureSelect Human All Exon kit |
| Fragmentation Methods | Ultrasonic fragmentation |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 200 bp |
| Japanese Genotype-phenotype Archive Dataset ID | |
| Total Data Volume |
JGAD000284: 488 GB (fastq) JGAD000669: 59.5 GB (fastq) JGAD000852:846.3 GB(fastq) |
| Comments (Policies) | NBDC policy |
| Participants/Materials |
Neoplastic disease: 23 cases (55 samples) Small cell lung cancer (ICD10: C34) Biliary tract cancer (ICD10: C23, C24, C78) Colon cancer (ICD10: C18-20) Duodenal cancer (ICD10: C17) Esophageal cancer (ICD10: C15) Stomach cancer (ICD10: C16, C78) Liver cancer (ICD10: C22) Pancreatic cancer (ICD10: C25) |
| Targets | WGS |
| Target Loci for Capture Methods | - |
| Platform | Illumina [HiSeq X Ten] |
| Library Source | DNAs extracted from peripheral blood cells and organoids established from normal and cancer tissues of the patients |
| Cell Lines | - |
| Library Construction (kit name) | Library was constructed by BGI |
| Fragmentation Methods | Ultrasonic fragmentation |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 300 bp |
| Japanese Genotype-phenotype Archive Dataset ID | |
| Dataset ID of the Processed data by JGA | |
| Total Data Volume | 2.752 TB (fastq) |
| Comments (Policies) | NBDC policy |
RNA-seq (JGAS000237, JGAS000378)
| Participants/Materials |
Neoplastic disease: 23 + 4 cases (35+ 5 samples) Small cell lung cancer (ICD10: C34) Biliary tract cancer (ICD10: C23, C24, C78) Colon cancer (ICD10: C18-20) Duodenal cancer (ICD10: C17) Esophageal cancer (ICD10: C15) Stomach cancer (ICD10: C16, C78) Liver cancer (ICD10: C22) Pancreatic cancer (ICD10: C25) |
| Targets | RNA-seq |
| Target Loci for Capture Methods | - |
| Platform | Illumina [HiSeq 2500/X Ten, NovaSeq 6000] |
| Library Source |
RNAs extracted from organoids established from tumor tissues and a normal epithelial tissue of the patients RNAs extracted from organoids with BET bromodomain inhibitor established from tumor tissues and a normal epithelial tissue of colon cancer patients |
| Cell Lines | - |
| Library Construction (kit name) |
TruSeq RNA Library Prep Kit v2 TruSeq Stranded mRNA Library Prep Kit |
| Fragmentation Methods | Heat treatment |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 250 bp/150 bp |
| Japanese Genotype-phenotype Archive Dataset ID | |
| Total Data Volume |
JGAD000336: 2.752 TB (fastq) JGAD000492: 190.5 GB (fastq) |
| Comments (Policies) | NBDC policy |
| Participants/Materials | Neoplastic disease (ICD10: C16): 1 case (1 sample) |
| Targets | RNA-seq |
| Target Loci for Capture Methods | - |
| Platform | Illumina [HiSeq X Ten] |
| Library Source | Total RNA extracted from normal duodenum organoids with or without a four-day medium rotation, and after 0, 1, 2 or 4 days of medium rotation |
| Cell Lines | - |
| Library Construction (kit name) |
TruSeq RNA Library Prep Kit v2 TruSeq Stranded mRNA Library Prep Kit |
| Fragmentation Methods | Heat treatment |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 250 bp/150 bp |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD000359 |
| Total Data Volume | 37 GB (fastq) |
| Comments (Policies) | NBDC policy |
| Participants/Materials | Neoplastic disease (ICD10: C16): 2 cases (11 samples) |
| Targets | RNA-seq |
| Target Loci for Capture Methods | - |
| Platform | Illumina [HiSeq 4000] |
| Library Source | RNAs extracted from organoids derived from colon cancer tissues |
| Cell Lines | - |
| Library Construction (kit name) |
TruSeq RNA Library Prep Kit v2 TruSeq Stranded mRNA Library Prep Kit |
| Fragmentation Methods | Heat treatment |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 250 bp/150 bp |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD000464 |
| Total Data Volume | 108.9 GB (fastq) |
| Comments (Policies) | NBDC policy |
| Participants/Materials | Neoplastic disease (ICD10: C18): 2 cases (8 samples) |
| Targets | RNA-seq |
| Target Loci for Capture Methods | - |
| Platform | Illumina [NovaSeq 6000] |
| Library Source | Total RNA extracted from normal duodenum organoids with or without a four-day medium rotation, and after 0, 1, 2 or 4 days of medium rotation |
| Cell Lines | - |
| Library Construction (kit name) |
TruSeq RNA Library Prep Kit v2 TruSeq Stranded mRNA Library Prep Kit |
| Fragmentation Methods | Heat treatment |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 150 x 2 bp |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD000669 |
| Total Data Volume | 46.6 GB (fastq) |
| Comments (Policies) | NBDC policy |
| Participants/Materials |
Pancreatic cancer (ICD10: C25): 40 cases (50 samples) organoids derived from tumor tissues: 38 cases (38 samples) genetically engineered pancreatic duct organoids: 2 cases (12 samples) |
| Targets | RNA-seq |
| Target Loci for Capture Methods | - |
| Platform | Illumina [HiSeq 4000, NovaSeq 6000] |
| Library Source | RNAs extracted from pancreatic cancer organoids or genetically engineered pancreatic duct organoids |
| Cell Lines | - |
| Library Construction (kit name) |
TruSeq RNA Library Prep Kit v2 TruSeq Stranded mRNA Library Prep Kit |
| Fragmentation Methods | Heat treatment |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 150 x 2 bp |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD000852 |
| Total Data Volume | 846.3 GB (fastq) |
| Comments (Policies) | NBDC policy |
| Participants/Materials | Neoplastic disease (ICD10: C16): 1 case (1 sample) |
| Targets | scRNA-seq |
| Target Loci for Capture Methods | - |
| Platform | Illumina [HiSeq 4000] |
| Library Source | RNAs extracted from organoids from normal colonic tissue |
| Cell Lines | - |
| Library Construction (kit name) | Single Cell 3′ Library & Gel Bead Kit v2 and the A Chip Kit (10X Genomics) |
| Fragmentation Methods | Enzymatic fragmentation |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 28+91 bp |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD000669 |
| Total Data Volume | 66.0 GB (fastq) |
| Comments (Policies) | NBDC policy |
| Participants/Materials |
Pancreatic cancer (ICD10: C25): 1 case (6 samples) (genetically engineered pancreatic duct organoids) |
| Targets | scRNA-seq |
| Target Loci for Capture Methods | - |
| Platform | Illumina [HiSeq 4000] |
| Library Source | RNAs extracted from genetically engineered pancreatic duct organoids |
| Cell Lines | - |
| Library Construction (kit name) | Chromium Next GEM Single Cell 3’ Reagent Kits v3.1 |
| Fragmentation Methods | Enzymatic fragmentation |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 28+91 bp |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD000852 |
| Total Data Volume | 846.3 GB (fastq) |
| Comments (Policies) | NBDC policy |
| Participants/Materials |
Neoplastic disease: 4 cases (5 samples) Colon cancer (ICD10: C18) |
| Targets | ChIP-seq |
| Target Loci for Capture Methods | - |
| Platform | Illumina [HiSeq X Ten] |
| Library Source | DNAs extracted from organoids derived from colon cancer tissues and a normal epithelial tissue of the patients, and immunoprecipitated with an anti-histone antibody (H3K27Ac) |
| Cell Lines | - |
| Library Construction (kit name) | Illumina Tagment DNA TDE1 Enzyme and Buffer Kits |
| Fragmentation Methods | Ultrasonic fragmentation (Bioruptor Ⅱ) |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 150 bp |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD000492 |
| Total Data Volume | 190.5 GB (fastq) |
| Comments (Policies) | NBDC policy |
| Participants/Materials |
Pancreatic cancer (ICD10: C25): 5 cases (13 samples) organoids derived from tumor tissues: 3 cases (3 samples) genetically engineered pancreatic duct organoids: 2 cases (10 samples) |
| Targets | ChIP-seq |
| Target Loci for Capture Methods | - |
| Platform | Illumina [HiSeq X Ten] |
| Library Source | DNAs extracted from pancreatic cancer organoids or genetically engineered pancreatic duct organoids, and immunoprecipitated with an anti-histone antibody (H3K27me3) |
| Cell Lines | - |
| Library Construction (kit name) | Illumina Tagment DNA TDE1 Enzyme and Buffer Kits |
| Fragmentation Methods | Ultrasonic fragmentation (Bioruptor Ⅱ) |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 150 bp |
| QC | FRiP score |
| Mapping Methods | Bowtie2 |
| Reference Genome Sequence | hg38 |
| Peak Calling Methods (software) | MACS2 |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD000852 |
| Total Data Volume | 882.8 GB (fastq, bed) |
| Comments (Policies) | NBDC policy |
| Participants/Materials |
Pancreatic cancer (ICD10: C25): 12 cases (16 samples) organoids derived from tumor tissues: 10 cases (12 samples) genetically engineered pancreatic duct organoids: 2 cases (4 samples) |
| Targets | ATAC-seq |
| Target Loci for Capture Methods | - |
| Platform | Illumina [HiSeq X Ten] |
| Library Source | DNAs extracted from pancreatic cancer organoids or genetically engineered pancreatic duct organoids |
| Cell Lines | - |
| Library Construction (kit name) | Omni-ATAC protocol |
| Fragmentation Methods | Tn5 transposase |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 150 x 2 bp |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD000852 |
| Total Data Volume | 846.3 GB (fastq) |
| Comments (Policies) | NBDC policy |
| Participants/Materials |
Duodenal adenoma (ICD10: D13.2): 3 cases (6 samples) organoids derived from duodenal tumor tissues: 3 cases (3 samples) organoids derived from normal duodenal tissues: 3 cases (3 samples) |
| Targets | Exome |
| Target Loci for Capture Methods | - |
| Platform | Illumina [NovaSeq 6000] |
| Library Source | DNAs extracted from organoids established from tumor and normal tissues |
| Cell Lines | - |
| Library Construction (kit name) | SureSelect Human All Exon V6 |
| Fragmentation Methods | Ultrasonic fragmentation |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 150 bp |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD001024 |
| Total Data Volume | 186.3 GB (fastq) |
| Comments (Policies) | NBDC policy |
| Participants/Materials |
Colon cancer (ICD10: C18): 3 cases (22 samples) organoids derived from normal ileum tissues: 2 cases (6 samples) genetically engineered normal ileum organoids: 2 cases (12 samples) organoids derived from normal colon tissues: 1 case (2 samples) genetically engineered normal colon organoids: 1 case (2 samples) Duodenal adenoma (ICD10: D13.2): 3 cases (12 samples) organoids derived from duodenal tumor tissues: 3 cases (6 samples) organoids derived from normal duodenal tissues: 3 cases (6 samples) Stomach cancer (ICD10: C16): 1 case (4 samples) organoids derived from normal duodenal tissues: 1 case (2 samples) genetically engineered normal duodenal organoids: 1 case (2 samples) 1 healthy individual organoids derived from normal duodenal tissues: 1 case (2 samples) genetically engineered normal duodenal organoids: 1 case (2 samples) |
| Targets | RNA-seq |
| Target Loci for Capture Methods | - |
| Platform | Illumina [NovaSeq 6000] |
| Library Source | RNAs extracted from organoids established from tumor and normal tissues or genetically engineered organoids |
| Cell Lines | - |
| Library Construction (kit name) | TruSeq RNA Library Prep Kit v2 |
| Fragmentation Methods | Heat treatment |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 150 bp |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD001024 |
| Total Data Volume | 186.3 GB (fastq) |
| Comments (Policies) | NBDC policy |
Principal Investigator: Toshiro Sato
Affiliation: Department of Organoid Medicine, Keio University School of Medicine
Project / Group Name: -
Funds / Grants (Research Project Number):
| Name | Title | Project Number |
|---|---|---|
| Project for Elucidating and Controlling Mechanisms of Aging and Longevity, Japan Agency for Medical Research and Development (AMED) | Understanding changes in aging traits aimed at controlling the onset of gastrointestinal diseases | JP19gm5010002 |
| Project for Cancer Research and Therapeutic Evolution (P-CREATE), Japan Agency for Medical Research and Development (AMED) | Development of advanced drug discovery system based on understanding of cancer multi-level phenotype | JP19cm0106206 |
| Core Research and Evolutional Science and Technology, Advanced Research & Development Programs for Medical Innovation, Japan Agency for Medical Research and Development (AMED-CREST) | Dissecting intestinal fibrogenic diseases by a newly developed 4D disease model system | JP19gm1210001 |
| KAKENHI Grant-in-Aid for Scientific Research (S) | Gaining Integrative Understanding of Gastrointestinal Disease Phenotypes through Establishment of an Organoid Library | 17H06176 |
| KAKENHI Grant-in-Aid for Scientific Research (B) | Functional analysis of small intestinal epithelial organoid-based transplant graft | 20H03746 |
| KAKENHI Grant-in-Aid for Scientific Research (S) | Elucidating a role of niche construction in pathophysiological mechanism of human digestive diseases | 22H04995 |
| Title | DOI | Dataset ID | |
|---|---|---|---|
| 1 | Somatic inflammatory gene mutations in human ulcerative colitis epithelium | doi: 10.1038/s41586-019-1844-5 | JGAD000284 |
| 2 | An Organoid Biobank of Neuroendocrine Neoplasms Enables Genotype-Phenotype Mapping | doi: 10.1016/j.cell.2020.10.023 |
JGAD000335 JGAD000336 |
| 3 | An organoid-based organ repurposing approach to treat short bowel syndrome | doi: 10.1038/s41586-021-03247-2 | JGAD000359 |
| 4 | Organoid screening reveals epigenetic vulnerabilities in human colorectal cancer | doi: 10.1038/s41589-022-00984-x | JGAD000492 |
| 5 |
| Principal Investigator | Affiliation | Country/Region | Research Title | Data in Use (Dataset ID) | Period of Data Use |
|---|---|---|---|---|---|
| Klaus H. Kaestner | Institue for Diabetes, Obesity & Metabolism at Unversity of Pennsylvania | Somatic mutation analysis of the pancreas in type 1 diabetes | JGAD000284 | 2020/04/13-2021/03/03 | |
| Ulf Leser | Department of Mathematics and Computer Science, Humboldt-Universitaet zu Berlin | MAPTor-NET: MAPK-mTOR network model driven individualized therapies of pancreatic neuro-endocrine tumors (pNETs) | JGAD000335, JGAD000336 | 2021/06/03-2023/04/01 | |
| Nobuhiro Tanuma | Miyagi Cancer Center Research Institute | Japan | Study on biological characters of pancreatic and gastrointestinal neuroendocrine tumors using patient-derived organoids. | JGAD000336 | 2022/09/19-2023/07/31 |
| Michiaki Hamada | Faculty of Science and Engineering, Waseda University | Japan | Construction of RNA-targeted Drug Discovery Database | JGAD000336, JGAD000359, JGAD000492 | 2022/12/26-2025/03/31 |
| Takuya Yamamoto | Laboratory of Precision Immunology, National Institutes of Biomedical Innovation, Health and Nutrition | Japan | Basic research for vaccine development against gastrointestinal cancer and malignant melanoma based on the identification of novel cancer antigens | JGAD000852 | 2024/11/12-2026/03/31 |
| Kenichi Yoshida | Division of Cancer Evolution, National Cancer Center Research Institute | Japan | A multicenter study on genomic analysis of solid tumors | JGAD000852 | 2025/09/19-2028/03/31 |
NBDC Research ID: hum0536.v1
Aims: Malignant pleural mesothelioma is an aggressive pleural tumor with poor prognosis. Understanding the molecular mechanisms underlying its development and progression is essential for improving diagnosis and treatment. This study aims to identify clinically relevant molecular pathways through genomic and transcriptome analyses of tumor and non-tumor pleural tissues. Candidate genes associated with tumor initiation and progression will be analyzed in terms of gene expression, localization, dynamics, and cell-to-cell interactions. Their correlation with clinicopathological parameters will also be investigated. Tumor tissues will be preserved by cryopreservation or transplantation into immunodeficient mice to enable further studies using in vivo models or in vitro cell culture systems.
Methods: WGS, single-cell RNA-seq, ATAC-seq
Participants/Materials: One pleural mesothelioma patient
| Dataset ID | Type of Data | Criteria | Release Date |
|---|---|---|---|
| JGAS000859 | NGS (WGS, scRNA-seq, ATAC-seq) | Controlled-access (Type I) | 2026/04/08 |
*Data users need to apply an application for Using NBDC Human Data to reach the Controlled-access Data. Learn more
| Participants/Materials: |
Pleural mesothelioma (ICD10: C45.0): 1 case tumor tissues: 2 samples |
| Targets | WGS |
| Target Loci for Capture Methods | - |
| Platform | Illumina [NovaSeq 6000] |
| Library Source | DNAs extracted from tumor tissues |
| Cell Lines | - |
| Library Construction (kit name) | Illumina DNA PCR-Free Prep Kit |
| Fragmentation Methods | Transposome-mediated on-bead tagmentation |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 150 bp x 2 |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD001002 |
| Total Data Volume | 680.3 GB (fastq) |
| Comments (Policies) | NBDC policy |
| Participants/Materials: |
Pleural mesothelioma (ICD10: C45.0): 1 case tumor tissue: 1 sample Patient-derived xenograft (PDX) tumor model specimen: 2 samples |
| Targets | scRNA-seq |
| Target Loci for Capture Methods | - |
| Platform | Illumina [NovaSeq 6000] |
| Library Source | RNAs extracted from enzymatically dissociated tumor samples |
| Cell Lines | - |
| Library Construction (kit name) | Chromium Single Cell 5' Reagent Kits v2 Dual Index, Library Construction Kit |
| Fragmentation Methods | Enzymatic fragmentation |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | Read1: 26 bp, Read2: 90bp |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD001002 |
| Total Data Volume | 680.3 GB (fastq) |
| Comments (Policies) | NBDC policy |
| Participants/Materials: |
Pleural mesothelioma (ICD10: C45.0): 1 case Patient-derived cell line: 2 samples |
| Targets | ATAC-seq |
| Target Loci for Capture Methods | - |
| Platform | Illumina [NovaSeq 6000] |
| Library Source | DNAs extracted from cell line |
| Cell Lines | - |
| Library Construction (kit name) | ATAC-Seq Kit(Active Motif) |
| Fragmentation Methods | included in the above library construction kit |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 150 bp x 2 |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD001002 |
| Total Data Volume | 680.3 GB (fastq) |
| Comments (Policies) | NBDC policy |
Principal Investigator: Shumpei Ishikawa
Affiliation: Department of Preventive Medicine, Graduate School of Medicine, The University of Tokyo
Project / Group Name: -
Funds / Grants (Research Project Number):
| Name | Title | Project Number |
|---|---|---|
| KAKENHI Grant-in-Aid for Scientific Research (S) | A New Definition of Heterogeneity in Gastric Cancer through Quantitative Integration of Spatial Tissue and Genomic Information | 22H04990 |
| Practical Research for Innovative Cancer Control, Japan Agency for Medical Research and Development (AMED) | Trajectory Analysis of Genomic and Pathological Information during the Treatment Course of Refractory Cancers | JP24ck0106904 |
| KAKENHI Grant-in-Aid for Scientific Research (B) | Elucidation of a Novel Neutrophil–Tumor Interaction in Diffuse-Type Gastric Cancer | 23K27436 |
| KAKENHI Grant-in-Aid for JSPS Fellows | Mechanistic Dissection of Tumor–Stromal Interactions and Identification of Therapeutic Targets in Malignant Pleural Mesothelioma | 23KJ0836 |
| Title | DOI | Dataset ID | |
|---|---|---|---|
| 1 | Cooperative Response Loops Enhanced by Histamine Signaling during Tumor-Neutrophil Crosstalk in Pleural Mesothelioma | JGAD001002 |
| Principal Investigator | Affiliation | Country/Region | Research Title | Data in Use (Dataset ID) | Period of Data Use |
|---|---|---|---|---|---|