NBDC Research ID: hum0473.v1
SUMMARY
Aims: Genetic mutations in hematopoietic neoplasms, seen in disease-specific and non-specific ways, are key drivers in pathogenesis. Typically, these mutations alone don't cause neoplasms; rather, multiple mutations or breakdowns in regulatory mechanisms occur, progressing the disease through stages. Genetic mutation patterns vary even within subtypes, suggesting shared gene expression abnormalities from different mutations may drive neoplasm development. Identifying these "common factors" is vital for effective molecular-targeted therapy development. Our study aims to elucidate neoplasm pathogenesis by analyzing patient genetic abnormalities, pinpointing "common factors" in each subtype for novel targeted therapy development.
Methods: RNA sequencing
Participants/Materials: Bone marrow CD34-positive cells from 57 patients with myelodysplastic syndromes (MDS) and 5 healthy individuals (62 participants in total)
| Dataset ID | Type of Data | Criteria | Release Date |
|---|---|---|---|
| JGAS000724 | NGS (RNA-seq) | Controlled-access (Type I) | 2025/06/30 |
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MOLECULAR DATA
| Participants/Materials |
MDS (ICD10: D46): 57 cases Healthy donors: 5 individuals Mononuclear cells (MNCs) isolated from bone marrow aspirates: 62 samples in total |
| Targets | RNA-seq |
| Target Loci for Capture Methods | - |
| Platform | Illumina [NovaSeq 6000] |
| Library Source | RNAs extracted from CD34+ cells purified from bone marrow MNCs |
| Cell Lines | - |
| Library Construction (kit name) | NEBNext Poly(A) mRNA Magnetic Isolation Module, NEBNext Ultra II Directional RNA Library Prep Kit |
| Fragmentation Methods | NEBNext Magnesium RNA Fragmentation Module |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 150 bp x 2 |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD000857 |
| Total Data Volume | 244.4 GB (fastq) |
| Comments (Policies) | NBDC policy |
DATA PROVIDER
Principal Investigator: Yuka Harada
Affiliation: Clinical Research and Trial Center, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital
Project / Group Name: Elucidating the Pathogenesis of Hematological Malignancies via Genetic Analysis
Funds / Grants (Research Project Number):
| Name | Title | Project Number |
|---|---|---|
| Clinical Research Fund of Tokyo Metropolitan Government | Developing a Comprehensive Diagnostic Approach for Myeloid Disorders Using AI to Guide Treatment Selection and Prognosis Prediction | R040301001 |
| Clinical Research Fund of Tokyo Metropolitan Government | Developing a Diagnostic Approach for Myelodysplastic Syndromes Based on Abnormal Mitochondrial Dynamics | R050401011 |
| KAKENHI Grant-in-Aid for Scientific Research (C) | Molecular diagnosis of myeloid neoplasms using targeted gene panel | JP20K07840 |
| KAKENHI Grant-in-Aid for Scientific Research (B) | Chronic Inflammation via cGAS-STING Activation Triggered by Mitochondrial Fragmentation in Myelodysplastic Syndromes | JP22H02905 |
| KAKENHI Grant-in-Aid for Scientific Research (C) | Development of a High-Precision Diagnostic System for Differentiating Myelodysplastic Syndromes and Bone Marrow Failure Syndromes | JP23K06899 |
PUBLICATIONS
| Title | DOI | Dataset ID | |
|---|---|---|---|
| 1 | |||
| 2 |
USRES (Controlled-access Data)
| Principal Investigator | Affiliation | Country/Region | Research Title | Data in Use (Dataset ID) | Period of Data Use |
|---|---|---|---|---|---|
