NBDC Research ID: hum0038.v1



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: http://nagasaki-molphys.org/?portfolio_cpt=lethalarrhythmias


Data Set IDType of DataCriteriaRelease Date
JGAS00000000041 NGS (Exome) Controlled Access (Type I) 2015/11/18

*Release Note 

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Participants/Materials 11 Patients with an inherited cardiac arrhythmia
Targets Exome
Target Loci for Capture Methods -
Platform Illumina [Hiseq2000]
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 Data set ID JGAD00000000041
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.



Principal Investigator: Naomasa Makita

Affiliation: Department of Molecular Physiology, Nagasaki University Graduate School of Biomedical Sciences

Project / Group Name:

URL: http://nagasaki-molphys.org

Funds / Grants (Research Project Number):

Name Title Project Number
Grant-in-Aid for Scientific Research on Innovative Areas Molecular basis of cardiac channelopathies 22136007



TitleDOIData Set ID
1 Successful control of life-threatening polymorphic ventricular tachycardia by radiofrequency catheter ablation in an infant. doi: 10.1007/s00380-013-0390-6. JGAD00000000041
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. JGAD00000000041


USERS (Controlled-Access Data)

Principal Investigator: Affiliation: Data in Use (Data Set ID)Period of Data Use