NBDC Research ID: hum0020.v1
SUMMARY
Aims: To identify causative genes in amyotrophic lateral sclerosis (ALS).
Methods: Whole exome sequence analysis using Illumina HiSeq 2000.
Participants/Materials: 11 familial ALS patients
| Dataset ID | Type of Data | Criteria | Release Date |
|---|---|---|---|
| JGAS000013 | NGS (Exome) | Controlled-access (Type I) | 2015/01/08 |
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MOLECULAR DATA
| Participants/Materials | 11 familial ALS patients |
| 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 S220) |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 100 bp |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD000013 |
| Total Data Volume | 110 GB |
| 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: Fumiaki Tanaka
Affiliation: Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine
Project / Group Name:
Funds / Grants (Research Project Number):
| Name | Title | Project Number |
|---|---|---|
| KAKENHI Grant-in-Aid for Scientific Research on Innovative Areas | Elucidation of causative genes and pathogenesis of ALS through personal genome analysis | 22129005 |
PUBLICATIONS
| Title | DOI | Dataset ID | |
|---|---|---|---|
| 1 | |||
| 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 | JGAD000013 | 2024/07/01-2027/03/31 |
