Research list

Research on new diagnosis and clinical picture of lymphoproliferative diseases by combining genetic analysis and immunological traits

Sequencing

NGS
(Target Capture, Exome)

Waldenström macroglobulinemia: 10 cases
non IgM-type lymphoplasmacytic lymphoma: 10 cases
T cell lymphoproliferative disease: 1 case
(Japanese)

Exploratory Biomarker Study Associated with the Investigator-Initiated Clinical Trial of Alectinib for Rare Cancers Harboring ALK Alterations

Sequencing

NGS
(Target capture)

Rare cancers harboring ALK alterations: 24 cases
(Japanese)

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

Expression profiling

NGS
(scRNA-seq, scTCR-seq, scCITE-seq, bulk RNA-seq)

28 healthy individuals
(Japanese)

The mutiomics analysis on liver tumor with rare liver diseases, including Fontan associated liver diseases

Sequencing; Expression profiling

NGS
(WGS, RNA-seq)

liver cancer caused by rare liver diseases: 13 cases
(Japanese)

Elucidation of the Molecular Mechanisms of Advanced Thyroid Cancer through Single-Cell Gene Expression Analysis

Expression profiling

NGS
(scRNA-seq)

undifferentiated thyroid carcinoma: 3 cases
papillary thyroid carcinoma: 3 cases
(Japanese)

Immune profiling study of COVID-19 vaccine recipients

Expression profiling

NGS
(scRNA-seq, scTCR-seq)

14 healthy donors who received COVID-19 vaccines
(Japanese)

Derivation of human post-mitotic cardiomyocytes from tetraploid iPSCs

Expression profiling

NGS
(RNA-seq)

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

Research of genetic abnormalities related to the development and prognosis of adenocarcinoma and squamous cell carcinoma of the cervix and vaginal and vulvar cancer

Sequencing, Expression profiling, Methylation profiling

NGS (Exome, RNA-seq, scRNA-seq, Target bisulfite-seq); Xenium In Situ Gene Expression

cervical cancer: 19 + 4 + 96 cases
(Japanese)
NIKS18 cell line: 5 samples
(Cell-line)

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

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

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

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)

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

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

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

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)

Comprehensive genomic analysis of hematological malignancies

Sequencing, Expression profiling

NGS
(Exome, RNA-seq)

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

Construction of a genome analysis database for malignant tumors

Sequencing, Expression profiling

NGS
(Exome, RNA-seq)

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

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

Expression profiling

NGS
(RNA-seq)

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

Comprehensive gene expression analysis in renal cell carcinoma

Expression profiling

NGS
(RNA-seq)

renal cell carcinoma: 201 cases
(Japanese)

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

Histone modification profiling

NGS
(ChIP-seq)

lung cancer: 17 cases
(Japanese)

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)

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

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

Sequencing

NGS
(WGS)

colorectal cancer: 62 cases
(Japanese)

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

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