NBDC Research ID: hum0165.v1
SUMMARY
Aims: Investigation of a causal gene of familial myelodysplastic syndromes (MDS)
Methods: Whole exome sequencing was performed in two MDS patients in the same pedigree.
Participants/Materials: Two patients of myelodysplastic syndromes
| Dataset ID | Type of Data | Criteria | Release Date |
|---|---|---|---|
| JGAS000162 | NGS (Exome) | Controlled-access (Type I) | 2019/05/07 |
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MOLECULAR DATA
| Participants/Materials | familial myelodysplastic syndrome (ICD10: D46): 2 cases (in one pedigree) |
| Targets | NGS (Exome) |
| Target Loci for Capture Methods | - |
| Platform | Illumina [HiSeq 2500] |
| Library Source | DNAs extracted from peripheral blood cells and buccal mucosae |
| Cell Lines | - |
| Library Construction (kit name) | NEBNext® Ultra™ DNA Library Prep Kit for Illumina® |
| Fragmentation Methods | Ultrasonic fragmentation (Covaris) |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 125 bp |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD000240 |
| Total Data Volume | 139 GB (bam [ref: hg19]) |
| Comments (Policies) | NBDC policy & Familial policy |
DATA PROVIDER
Principal Investigator: Junji Koya
Affiliation: The Universiy of Tokyo Hospital, Department of Hematology and Oncology
Project / Group Name: Investigation of a causal gene of familial myelodysplastic syndromes and its molecular mechanism
Funds / Grants (Research Project Number):
| Name | Title | Project Number |
|---|---|---|
| KAKENHI Grant-in-Aid for Young Scientists (B) | Investigation of a causal gene of familial myelodysplastic syndromes and its molecular mechanism | 17K16181 |
| KAKENHI Grant-in-Aid for JSPS Research Fellows | Investigation of a causal gene and a molecular mechanism of familial myelodysplastic syndromes | 15J03679 |
PUBLICATIONS
| Title | DOI | Dataset ID | |
|---|---|---|---|
| 1 | A germline HLTF mutation in familial MDS induces DNA damage accumulation through impaired PCNA polyubiquitination. | doi: 10.1038/s41375-019-0385-0 | JGAD000240 |
| 2 |
USERS (Controlled-access Data)
| Principal Investigator | Affiliation | Country/Region | Research Title | Data in Use (Dataset ID) | Period of Data Use |
|---|---|---|---|---|---|
