NBDC Research ID: hum0269.v2
SUMMARY
Aims: Elucidation of the pathophysiology of patients with hereditary cardiovascular disease
Methods: Whole exome sequencing analysis and RNA-seq analysis
Participants/Materials: hereditary cardiovascular disease
URL: http://www.cardiology.med.osaka-u.ac.jp/?page_id=37180
| Data Set ID | Type of Data | Criteria | Release Date |
|---|---|---|---|
| JGAS000295 | NGS (Exome, RNA-seq) | Controlled-access (Type I) | 2021/05/25 |
|
JGAS000565 JGAS000566 JGAS000567 |
NGS (Exome) | Controlled-access (Type I) | 2024/03/18 |
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MOLECULAR DATA
| Participants/Materials | hereditary cardiovascular disease (ICD10: I42): 10 + 20 cases |
| Targets | Exome |
| Target Loci for Capture Methods | - |
| Platform | Illumina [HiSeq 3000] |
| Library Source | DNAs extracted from peripheral blood cells |
| Cell Lines | - |
| Library Construction (kit name) | SureSelect Human All Exon V6 |
| Fragmentation Methods | Ultrasonic fragmentation (Covaris) |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 100 bp |
| Japanese Genotype-phenotype Archive Data set ID | |
| Total Data Volume |
JGAD000402: 80.7 GB (fastq) JGAD000691: 22.4 GB (fastq) JGAD000692: 32.3 GB (fastq) JGAD000693: 46.8 GB (fastq) |
| Comments (Policies) | NBDC policy & Company User Limit |
| Participants/Materials | hereditary cardiovascular disease (ICD10: I42): 3 cases |
| Targets | RNA-seq |
| Target Loci for Capture Methods | - |
| Platform | Illumina [HiSeq 2500/3000] |
| Library Source | RNAs extracted from myocardial samples at the time of heart transplantation |
| Cell Lines | - |
| Library Construction (kit name) | TruSeq Stranded mRNA |
| Fragmentation Methods | Ultrasonic fragmentation (Covaris) |
| Spot Type | Paired-end or Single-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 100 bp |
| Japanese Genotype-phenotype Archive Data set ID | JGAD000402 |
| Total Data Volume | 80.7 GB (fastq) |
| Comments (Policies) | NBDC policy & Company User Limit |
DATA PROVIDER
Principal Investigator: Yoshihiro Asano
Affiliation: Department of Cardiovascular Medicine, Graduate School of Medicine, Osaka University
Project / Group Name: Molecular Genetics and Drug Discovery Group
URL: http://www.cardiology.med.osaka-u.ac.jp/?page_id=34297
Funds / Grants (Research Project Number):
| Name | Title | Project Number |
|---|---|---|
| KAKENHI Grant-in-Aid for Scientific Research (B) | Identification of de novo molecular targets and drug discovery by genome analysis and trans-omics analysis of hereditary cardiomyopathy | 19H03652 |
| KAKENHI Grant-in-Aid for Scientific Research (B) | Functional and informatics integration analysis based on whole genome analysis platform and identification of novel cardiomyopathy genes and elucidation of their mechanisms | 22H03067 |
| Research Center Network for Realization of Regenerative Medicine, Japan Agency for Medical Research and Development (AMED) | Development of Autologous Skeletal Myoblast Cell Sheet Transplantation for Dilated Cardiomyopathy Aiming Precision Medicine | JP22bm040070 |
| Research Center Network for Realization of Regenerative Medicine, Japan Agency for Medical Research and Development (AMED) | Drug discovery via development of multidisciplinary drug screening system by using disease specific-iPS cells derived from refractory cardiomyopathy | JP22bm0804008 |
PUBLICATIONS
| Title | DOI | Data Set ID | |
|---|---|---|---|
| 1 | Loss-of-function mutations in the co-chaperone protein BAG5 cause dilated cardiomyopathy requiring heart transplantation | doi: 10.1126/scitranslmed.abf3274 | JGAD000402 |
| 2 |
USRES (Controlled-Access Data)
| Principal Investigator | Affiliation | Country/Region | Research Title | Data in Use (Data Set ID) | Period of Data Use |
|---|---|---|---|---|---|
