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
| Data Set ID | Type of Data | Criteria | Release Date |
|---|---|---|---|
| JGAS00000000009 | NGS (Exome) | Controlled Access (Type I) | 2015/02/03 |
* Data users need to apply the Form 2 (Application Form for Using NBDC Human Data) to reach the Controlled Access Data. Learn more
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 (Agilent) |
| Fragmentation Methods | Covaris (S220) |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 100 bp |
| Japanese Genotype-phenotype Archive Data set ID | JGAD00000000009 |
| 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 | Data Set ID | |
|---|---|---|---|
| 1 | Multiple-System Atrophy Research Collaboration. Mutations in COQ2 in familial and sporadic multiple-system atrophy. | doi:10.1056/NEJMoa1212115 | JGAD00000000009 |
| 2 |
USERS (Controlled-Access Data)
| Principal Investigator: | Affiliation: | Data in Use (Data Set ID) | Period of Data Use |
|---|---|---|---|
