NBDC Research ID: hum0018.v1
SUMMARY
Aims: Identify causative genes or susceptible genes in neurodegenerative diseases
Methods: Exome sequence analysis using Illumina HiSeq 2000
Participants/Materials: 14 patients with multiple system atrophy and 7 healthy control subjects
Dataset ID | Type of Data | Criteria | Release Date |
---|---|---|---|
JGAS000009 | NGS (Exome) | Controlled-access (Type I) | 2015/02/03 |
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MOLECULAR DATA
Participants/Materials | Fourteen patients with multiple system atrophy and 7 healthy control subjects |
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 |
Fragmentation Methods | Ultrasonic fragmentation (Covaris S220) |
Spot Type | Paired-end |
Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 100 bp |
Japanese Genotype-phenotype Archive Dataset ID | JGAD000009 |
Total Data Volume | 260 GB |
Comments (Policies) |
DATA PROVIDER
Principal Investigator: Shoji Tsuji
Affiliation: Department of Neurology, Graduate School of Medicine, The University of Tokyo
Project / Group Name:
Funds / Grants (Research Project Number):
Name | Title | Project Number |
---|---|---|
Ministry of Education, Culture, Sports, Science and Technology Japan (MEXT) KAKENHI | Genome Science | 211S0002 |
PUBLICATIONS
Title | DOI | Dataset ID | ||
---|---|---|---|---|
1 | Multiple-System Atrophy Research Collaboration. Mutations in COQ2 in familial and sporadic multiple-system atrophy. | doi:10.1056/NEJMoa1212115 | JGAD000009 | |
2 |
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 | JGAD000009 | 2024/07/01-2027/03/31 |