NBDC Research ID: hum0377.v1
SUMMARY
Aims: Some of the fatal familial arrhythmias cause sudden death in seemingly healthy individuals. It is not easy to make a pre-symptomatic diagnosis of these diseases using only clinical examinations such as an electrocardiogram. The purpose of this study is to elucidate the cause of lethal arrhythmia and/or the genetic factors that influence its susceptibility, thereby enabling early diagnosis and selection of effective treatment methods, and preventing sudden death. If a genetic abnormality is found, it is expected that the functional abnormality can be evaluated and appropriate measures to prevent sudden death can be taken.
Methods: Peripheral blood cells were collected from the patients with LQTS and genomic DNAs were extracted. Fifteen causative and 85 candidate genetic loci of LQTS were targeted for the sequence analysis.
Participants/Materials: Japanese 556 LQTS patients
| Dataset ID | Type of Data | Criteria | Release Date |
|---|---|---|---|
| JGAS000579 | NGS (Amplicon-seq) | Controlled-access (Type I) | 2022/12/13 |
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| Participants/Materials | LQTS (ICD10: I45.81) : 556 cases |
| Targets | Amplicon-seq |
| Target Loci for Capture Methods | LQTS causative 15 genes and LQTS related 85 genes*1 |
| Platform | Thermo Fisher Scientific [Ion Proton] |
| Library Source | DNAs extracted from peripheral blood cells |
| Cell Lines | - |
| Library Construction (kit name) | Ion AmpliSeq Library Kit for Chef DL8 |
| Fragmentation Methods | - |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 119 bp (mean) |
| Mapping Methods | Ion Torrent Variant Caller |
| Mapping Quality |
Mapped reads: 2,485,134 On target region: 98.21% |
| Reference Genome Sequence | GRCh37 |
| Coverage (Depth) | 473.5 (mean) |
| Detecting Methods for Variation | Ion Torrent Variant Caller |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD000705 |
| Total Data Volume | 169.5 MB (vcf) |
| Comments (Policies) | NBDC policy |
*1: Shigemizu et al., 2015, doi: 10.1371/journal.pone.0130329
DATA PROVIDER
Principal Investigator: Toshihiro Tanaka
Affiliation: BioResource Research Center, Tokyo Medical and Dental University
Project / Group Name: Human Genetics and Disease Diversity
URL: https://www.tmd.ac.jp/english/dept/medicine/brc/
Funds / Grants (Research Project Number):
| Name | Title | Project Number |
|---|---|---|
| Platform Program for Promotion of Genome Medicine, Japan Agency for Medical Research and Development (AMED) | Elucidation of risk genes for sudden cardiac death and development of a stratification system | JP17km0405109 |
PUBLICATIONS
| Title | DOI | Dataset ID | |
|---|---|---|---|
| 1 | Targeted deep sequencing analyses of long QT syndrome in a Japanese population. | doi: 10.1371/journal.pone.0277242 | JGAD000705 |
| 2 |
USRES (Controlled-access Data)
| Principal Investigator | Affiliation | Country/Region | Research Title | Data in Use (Dataset ID) | Period of Data Use |
|---|---|---|---|---|---|
