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Research IDDatasetsTitleCategoryAnalysis methodPlatformsParticipantsAccess typeData providerDate publishedDate modified
hum0343

Development of COVID19 vaccine and evaluation system based on genetics of COVID-19

Sequencing, Genome-wide association, Expression profiling
NGS (RNA-seq), SNP-chip, Protein expression, eQTL/sQTL/pQTL, Presence or absence of endogenous herpesvirus 6, anellovirus load
  • Illumina NovaSeq 6000
  • Illumina Infinium Asian Screening Array
  • Olink Olink Explore 3072

COVID-19: 2,393 + 2,148 cases Healthy controls: 3,289 + 53,269 individuals (Japanese)

Controlled-access (Type I)Unrestricted-access
  • Koichi Fukunaga

2022-05-26(v1)
2026-08-13(v5)
hum0405

Research on the identification of cancer stem cells for peidatric and adult malignancies

Expression profiling Sequencing Methylation profiling Histone modification
NGS (Exome, RNA-seq, small RNA-seq, WGS, Amplicon-seq, scRNA-seq/ADT-seq/TCR-seq, CUT&RUN-seq) Methylation array
  • MGI DNBSEQ
  • Illumina HiSeq X
  • Illumina NextSeq 550
  • Illumina NovaSeq 6000
  • Illumina Infinium MethylationEPIC

Pediatric B-cell precursor acute lymphocytic leukemia: 69 cases Pediatric acute myeloid leukemia: 9 cases B-cell precursor acute lymphoblastic leukemia: 16 cases chronic active EBV infection: 65 cases infectious mononucleosis: 6 cases 4 healthy individuals (Japanese)

Controlled-access (Type I)
  • Junko Takita

2023-12-25(v1)
2026-08-05(v4)
hum0444

Research to elucidate pathological conditions of skin diseases caused by genetic alterations by multi-omics analysis

Sequencing Expression profiling Methylation profiling
NGS (WGS, Exome, Long-read WGS, Amplicon-seq, RNA-seq) SNP array Methylation array
  • MGI DNBSEQ
  • Illumina NovaSeq 6000
  • PacBio Sequel II
  • Illumina MiSeq
  • Illumina Infinium Asian Screening Array
  • Illumina Infinium MethylationEPIC
  • Illumina NovaSeq X Plus

8 porokeratosis patients 3 Nevus spilus-type congenital melanocytic nevus (NS-CMN) patients (Japanese)

Controlled-access (Type I)
  • Akiharu Kubo

2024-04-03(v1)
2026-08-04(v2)
hum0197

Elucidation of disease state by multi-layered omics analysis

Metagenome, GWAS, Expression profiling, eQTL, Chromatin structure analysis
Metagenome, SNP-chip, NGS (WGS, RNA-seq, scRNA-seq, snRNA-seq, snATAC-seq), Presence or absence of endogenous herpesvirus 6, anellovirus load, Proteomics
  • Illumina HiSeq 3000
  • Illumina NovaSeq 6000
  • Illumina HiSeq 2500
  • Illumina HiSeq 2500
  • Illumina Infinium Asian Screening Array
  • Illumina HumanOmniExpressExome
  • Illumina HumanOmniExpress
  • Illumina HumanExome
  • Applied Biosystems UK BiLEVE Axiom Array
  • Applied Biosystems UK Biobank Axiom Array
  • Thermo Fisher Scientific FinnGen1 ThermoFisher Array
  • Illumina HumanOmniExpressExome BeadChip
  • Illumina HiSeq X Ten
  • Illumina HumanOmniExpressExome BeadChip
  • Illumina HumanOmniExpress BeadChip
  • Illumina HumanExome BeadChip
  • UK Biobank: Applied Biosystems UK BiLEVE Axiom Array
  • UK Biobank: Applied Biosystems UK Biobank Axiom Array
  • Olink Olink Explore 3072
  • Illumina iCOGS OncoArray
  • MGI DNBSEQ
  • Illumina HiSeq X
  • Illumina NovaSeq 6000
  • Thermo Fisher Scientific Axiom Japonica Array v2
  • Illumina NovaSeq X Plus

95 + 103 + 227 + 30 + 141 + 136 + 88 + 5 + 524 individuals BBJ: 180,215 individuals UK biobank: 377,583 individuals FinnGen: 136,000 + 224,352 individuals BACC: 247,173 individuals PRACTICAL: 140,254 individuals Autoimmune pulmonary alveolar proteinosis: 198 cases Control participants: 395 Ulcerative Colitis: 35 cases Crohn's disease: 39 cases Healthy controls: 40 individuals Intracranial germ cell tumors: 133 cases Control participants: 762 COVID-19: 30 + 43 + 15 cases Healthy controls: 31 + 44 + 27 individuals Healthy subjects: 73 individuals Hunner-type interstitial cystitis: 144 cases Type 2 diabetes: 27,642 cases (BBJ) Control participants: 70,242 (BBJ) Type 2 diabetes: 27,642 cases (UK biobank) Control participants: 70,242 (UK biobank) Recurrent pregnancy loss: 1,728 cases Autoimmune diseases: 2,238 cases Control participants: 2,919 HPV-associated oropharyngeal cancer: 32 cases Non-HPV-associated oropharyngeal cancer: 17 cases Control participants: 2 NMOSD: 240 cases Control participants: 50,578 Psoriasis: 204 cases Control participants: 1,231 Japanese males: 161,026 (BBJ, JCTF, TMM, COVC, HERPACC, JPHC) Japanese male asthma: 3 cases Japanese male COVID-19: 4 cases Myasthenia gravis: 1,434 cases Control participants: 42,913 Moyamoya disease: 401 cases Control participants: 47,255 multiple sclerosis (MS): 20 cases MS: 688 cases (Japanese) Control participants: 205,199 MS: 27,572 cases (European) Control participants: 1,436,801 MS: 819 cases (African) Control participants: 155,904 MS: 295 cases (American) Control participants: 45,569 (Japanese, British, Finnish, African, American)

Controlled-access (Type I)Unrestricted-access
  • Yukinori Okada

2019-11-15(v1)
2026-07-31(v31)
hum0210

Comprehensive genomic analysis of hematological malignancies

Sequencing, Expression profiling
NGS (Exome, RNA-seq)
  • Illumina NextSeq 500
  • MGI DNBSEQ

1 patient with concomitant acute myeloid leukemia and mediastinal germ cell tumor 5 patients with adult T-cell leukemia/lymphoma (Japanese)

Controlled-access (Type I)
  • Kazuya Shimoda

2020-04-06(v1)
2026-07-30(v2)
hum0511

Identification of Molecular Markers and Elucidation of Molecular Mechanisms in Aging Using Centenarian Samples

Expression profiling
NGS (scRNA-seq、scTCR-seq、scCITE-seq)
  • MGI Tech MGISEQ

28 healthy individuals (Japanese)

Controlled-access (Type I)Unrestricted-access
  • Kosuke Hashimoto

2026-07-30(v1)
2026-07-30(v1)
hum0574

Construction of a genome analysis database for malignant tumors

Sequencing, Expression profiling
NGS (Exome, RNA-seq)
  • Illumina NovaSeq 6000

rectal cancer: 2 cases, gastric adenocarcinoma: 4 cases (Japanese)

Controlled-access (Type I)
  • Yoshifumi Shimada

  • Hiroshi Ichikawa

2026-07-24(v1)
2026-07-24(v1)
hum0588

Development of Disease Models and Cell Transplantation Therapies through the Optimization of Precise Genome Engineering in Human iPS Cells

Expression profiling
NGS (RNA-seq)
  • MGI Tech DNBSEQ

undifferentiated iPS cells and differentiated cardiomyocytes: 12 samples (Cell-line)

Controlled-access (Type I)
  • Yuichiro Miyaoka

2026-07-19(v1)
2026-07-19(v1)
hum0575

Comprehensive gene expression analysis in renal cell carcinoma

Expression profiling
NGS (RNA-seq)
  • Illumina HiSeq 1500
  • Illumina HiSeq 2500
  • Illumina NextSeq 550

renal cell carcinoma: 201 cases (Japanese)

Controlled-access (Type I)
  • Renpei Kato

2026-07-16(v1)
2026-07-16(v1)
hum0556

Research on the biological characteristics of gene expression profiles and biomarkers for diagnosis and treatment in lung cancer

Histone modification profiling
NGS (ChIP-seq)
  • Illumina HiSeq 2500

lung cancer: 17 cases (Japanese)

Controlled-access (Type I)
  • Takashi Sato

2026-06-23(v1)
2026-06-23(v1)
hum0427

Establishment of cell lines derived from head and neck malignancies Comprehensive genetic analysis and database construction for head and neck malignancies

Sequencing, Histone modification profiling
NGS (Exome, ChIP-seq)
  • MGI DNBSEQ
  • Illumina NextSeq 500

external auditory canal squamous cell carcinoma: 1 case temporal bone squamous cell carcinoma: 5 cases (Japanese)

Controlled-access (Type I)
  • Takashi Nakagawa

2023-11-02(v1)
2026-06-16(v2)
hum0543

Research on Large-Scale Genomic Structural Abnormalities and Cancer Genome Evolution in Colorectal Cancer

Sequencing
NGS (WGS)
  • Illumina NovaSeq 6000

colorectal cancer: 62 cases (Japanese)

Controlled-access (Type I)
  • Shinichi Yachida

2026-06-10(v1)
2026-06-10(v1)
hum0214

Integrative understanding of human immune system by functional genomics and development of intervention strategies for the prevention of autoimmune diseases

Expression profiling, eQTL
NGS (RNA-seq, scRNA-seq), eQTL, BCR repertoire analysis, TCR repertoire analysis
  • Illumina HiSeq 2500
  • Illumina HiSeq X Ten
  • Illumina NovaSeq 6000

10 Immune-mediated diseases: 544 cases 185 normal controls (Japanese)

Controlled-access (Type I)Unrestricted-access
  • Keishi Fujio

2020-10-09(v1)
2026-06-09(v10)
hum0447

Comprehensive genomic analysis to elucidate the molecular mechanism of initiation and progression of liver cancer, pancreatic cancer, lung cancer, stomach cancer, colorectal cancer, biliary tract cancer, breast cancer, esophageal cancer, uterine cancer, ovarian cancer, bladder cancer, kidney cancer, head and neck cancer, bone and soft tissue sarcoma, and malignant melanoma.

Sequencing
NGS (WGS)
  • Illumina NovaSeq 6000

colorectal cancer: 138 cases (Japanese)

Controlled-access (Type I)
  • Tatsuhiro Shibata

2026-06-09(v1)
2026-06-09(v1)
hum0006

Genomic and Genetic Analysis of Brain Tumors and Analysis of Their Clinicopathological Significance

Sequencing, expression profiling, methylation profiling
NGS (Exome, RNA-seq, Target Capture, FLeCS-seq, SMART-seq, WGS), Methylation array
  • Illumina HiSeq 2000
  • Illumina HumanMethylation450 BeadChip
  • Illumina HiSeq 2500
  • Oxford Nanopore Technologies PromethION
  • Element AVITI
  • Illumina NovaSeq 6000

6 astrocytomas 16 oligodendrogliomas gliomas (17 cerebellar gliomas, 8 cerebral glioblastomas and 14 thalamic gliomas) 94 gliomas 12 cerebral cavernous malformations 1 vertebral hemangioma 3 orbital cavernous malformations 1 glioma (Japanese)

Controlled-access (Type I)
  • Nobuhito Saito

2014-01-31(v1)
2026-06-03(v6)
hum0541

Personalized Medicine Based on Genomic Data

Genome-wide association study
SNP-chip
  • Illumina HumanOmniExpressExome BeadChip
  • Illumina HumanOmniExpress BeadChip
  • Illumina HumanExome BeadChip

BBJ 1st cohort: 176,894 individuals (Japanese)

Controlled-access (Type I)
  • Chikashi Terao

2026-06-02(v1)
2026-06-02(v1)
hum0561

A Prospective Multicenter Study of Exploring Genomic Correlates of Clinical Outcome in Patients with Metastatic Castration-Sensitive Prostate Cancer Receiving Enzalutamide

Sequencing
NGS (Exome)
  • Illumina NovaSeq 6000

mCSPC: 76 cases (Japanese)

Controlled-access (Type I)
  • Koji Hatano

2026-05-26(v1)
2026-05-26(v1)
hum0516

Nucleosome profiling of cell-free DNA enables detection of metastatic breast cancer, focusing on transcriptional dynamics

Sequencing
NGS (Target Capture)
  • Illumina NovaSeq 6000

breast cancer: 127 cases (Japanese)

Controlled-access (Type I)
  • Sugiko Watanabe

2026-05-20(v1)
2026-05-20(v1)
hum0580

Request for cooperation regarding collection and distribution of human specimens and research using clinical information

Sequencing
NGS (WGS)
  • Illumina NovaSeq 6000

gastric-type cervical adenocarcinoma: 1 case (Japanese)

Controlled-access (Type I)
  • Masaki Sugawara

2026-05-20(v1)
2026-05-20(v1)
hum0175

Development of actionable molecular targets and/or biomarkers for prognostication and patient stratification in gynecological cancer based on whole-exome sequencing and epigenomic analysis

Sequencing
NGS (Exome, Target Capture)
  • Illumina HiSeq 2000
  • Illumina NovaSeq 6000

69 endometrial carcinomas 30 endometrial hyperplasia patients 66 oral MPA-treatment cases (Japanese)

Controlled-access (Type I)
  • Nobuhiro Takeshima

2019-10-02(v1)
2026-05-19(v3)
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