NBDC Research ID: hum0070.v1
SUMMARY
Aims: Identification of gene mutations in Birt-Hogg-Dube (BHD) associated kidney cancer
Methods: Whole exome sequencing
Participants/Materials: 15 BHD-associated kidney cancers
| Dataset ID | Type of Data | Criteria | Release Date |
|---|---|---|---|
| JGAS000115 | NGS (Exome) | Controlled-access (Type I) | 2018/05/11 |
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MOLECULAR DATA
| Participants/Materials |
Birt-Hogg-Dube (BHD) associated kidney cancer: 15 cases 29 kidney cancer samples and 15 normal kidney samples |
| Targets | Exome |
| Target Loci for Capture Methods | - |
| Platform | Illumina [HiSeq 2000] |
| Library Source | DNAs extracted from kidney cancer and matched normal kidney samples |
| Cell Lines | - |
| Library Construction (kit name) | Agilent SureSelect v.5 + lncRNA kit |
| Fragmentation Methods | Ultrasonic fragmentation (Covaris S1) |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 100 bp |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD000125 |
| Total Data Volume | 485 GB (bam [ref: hg19]) |
| Comments (Policies) | NBDC policy |
DATA PROVIDER
Principal Investigator: Masahiro Yao
Affiliation: Department of Urology, Yokohama City University Graduate School of Medicine
Project / Group Name: -
Funds / Grants (Research Project Number):
| Name | Title | Project Number |
|---|---|---|
| Project for Development of Innovative Research on Cancer Therapeutics (P-DIRECT), Japan Agency for Medical Research and Development (AMED) | Elucidation of molecular pathogenesis and exploration for novel diagnostic marker and therapeutic target of Birt-Hogg-Dubé (BHD) syndrome-associated kidney cancer | - |
PUBLICATIONS
| Title | DOI | Dataset ID | |
|---|---|---|---|
| 1 | BHD-associated kidney cancer exhibits unique molecular characteristics and a wide variety of variants in chromatin remodeling genes. | doi: 10.1093/hmg/ddy181 | JGAD000125 |
USRES (Controlled-access Data)
| Principal Investigator | Affiliation | Country/Region | Research Title | Data in Use (Dataset ID) | Period of Data Use |
|---|---|---|---|---|---|
| Maher Eamonn | University of Cambridge | United Kingdom of Great Britain and Northern Ireland | Molecular Pathology of Human Genetic Disease | JGAD000125 | 2023/03/19-2024/07/20 |
