NBDC Research ID: hum0038.v1
SUMMARY
Aims: The purpose of this study is to identify a causative gene in an inherited cardiac arrhythmia
Methods: Exome sequence analysis (HiSeq 2000)
Participants/Materials: Patients with an inherited cardiac arrhythmia
URL: https://cvmp.med.nagasaki-u.ac.jp/?portfolio_cpt=lethalarrhythmias&lang=en
| Dataset ID | Type of Data | Criteria | Release Date |
|---|---|---|---|
| JGAS000041 | NGS (Exome) | Controlled-access (Type I) | 2015/11/18 |
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MOLECULAR DATA
| Participants/Materials | 11 Patients with an inherited cardiac arrhythmia |
| Targets | Exome |
| Target Loci for Capture Methods | - |
| Platform | Illumina [HiSeq 2000] |
| Library Source | gDNA extracted from peripheral blood cells |
| Cell Lines | - |
| Library Construction (kit name) | SureSelect Human All Exon 50 Mb Kit (Agilent) |
| Fragmentation Methods | Ultrasonic fragmentation (Covaris E220) |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 100 bp |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD000041 |
| Total Data Volume | 118 GB (fastq [22 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: Naomasa Makita
Affiliation: Department of Molecular Physiology, Nagasaki University Graduate School of Biomedical Sciences
Project / Group Name:
URL: https://cvmp.med.nagasaki-u.ac.jp/?lang=en
Funds / Grants (Research Project Number):
| Name | Title | Project Number |
|---|---|---|
| Grant-in-Aid for Scientific Research on Innovative Areas | Molecular basis of cardiac channelopathies | 22136007 |
PUBLICATIONS
| Title | DOI | Dataset ID | |
|---|---|---|---|
| 1 | Successful control of life-threatening polymorphic ventricular tachycardia by radiofrequency catheter ablation in an infant. | doi: 10.1007/s00380-013-0390-6 | JGAD000041 |
| 2 | Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. | doi: 10.1038/ng.2712 | JGAD000041 |
USERS (Controlled-access Data)
| Principal Investigator | Affiliation | Country/Region | Research Title | Data in Use (Dataset ID) | Period of Data Use |
|---|---|---|---|---|---|
| Satoshi Yuhara | Bioinformatics section, SRL inc. | Japan | Validation of Rare Disease Clinical Reporting System | JGAD000041 | 2024/07/01-2027/03/31 |
