NBDC Research ID: hum0097.v1
SUMMARY
Aims: To elucidate the pathogenicity of aplastic anemia with uniparental disomy in 6p
Methods: Exome sequence analysis
Participants/Materials: Patients with aplastic anemia with uniparental disomy in 6p
| Dataset ID | Type of Data | Criteria | Release Date |
|---|---|---|---|
| JGAS000094 | NGS (Exome) | Controlled-access (Type I) | 2018/05/25 |
*Data users need to apply an application for Using NBDC Human Data to reach the Controlled-access Data. Learn more
MOLECULAR DATA
| Participants/Materials |
Aplastic anemia with uniparental disomy in 6p (ICD10：D61.9): 5 cases |
| Targets | Exome |
| Target Loci for Capture Methods | - |
| Platform | Illumina [HiSeq 2500] |
| Library Source |
DNAs extracted from oral swab and peripheral blood cells - Loss of heterozygosity (LOH) fraction - Wild type (WT) fraction |
| Cell Lines | - |
| Library Construction (kit name) | SureSelect Human All Exon V5+UTRs Kit |
| Fragmentation Methods | Ultrasonic fragmentation (Covaris E220) |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 101 bp |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD000094 |
| Total Data Volume | 1 TB (fastq [30 files]) |
| Comments (Policies) | NBDC policy |
*This study was supported by "Genome Science". "Genome Science" is a part of the "Support Programs for Three Fields in Life Sciences (cancer, genome, and brain sciences)" established by the Ministry of Education, Culture, Sports, Science and Technology (MEXT) under the Grant-in-Aid for Scientific Research on Innovative Areas.
DATA PROVIDER
Principal Investigator: Shinji Nakao
Affiliation: Cellular Transplantation Biology, Faculty of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University. Graduate School of Medical Sciences
Project / Group Name: -
Funds / Grants (Research Project Number):
| Name | Title | Project Number |
|---|---|---|
| KAKENHI Grant-in-Aid for Scientific Research (B) | Analysis of clonal hematopoiesis in patients with aplastic anemia | 16H05335 |
| KAKENHI Grant-in-Aid for Scientific Research (B) | Identification of hematopoiesis regulator with genomic abnormality in patients with aplastic anemia | 24390243 |
PUBLICATIONS
| Title | DOI | Dataset ID | |
|---|---|---|---|
| 1 | Identification of an HLA class I allele closely involved in the autoantigen presentation in acquired aplastic anemia. | doi: 10.1182/blood-2016-11-752378 | - |
| 2 | Clinical significance and origin of leukocytes that lack HLA-A allele expression in patients with acquired aplastic anemia. | doi: 10.1016/j.exphem.2016.05.013 | - |
| 3 | Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia. | doi: 10.1056/NEJMoa1414799 | - |
| 4 | Frequent loss of HLA alleles associated with copy number-neutral 6pLOH in acquired aplastic anemia. | doi: 10.1182/blood-2011-07-365189 | - |
| 5 | Sustained clonal hematopoiesis by HLA-lacking hematopoietic stem cells without driver mutations in aplastic anemia.. | doi: 10.1182/bloodadvances.2017013953 | JGAD000094 |
USRES (Controlled-access Data)
| Principal Investigator: | Affiliation: | Data in Use (Dataset ID) | Period of Data Use |
|---|---|---|---|
