NBDC Research ID: hum0001.v1
SUMMARY
Aims: To identify the short tandem repeats (STRs) with a 10-base repeat unit in spinocerebellar ataxia type 31 (SCA31).
Genome informaticians are able to use this data for their research.
Methods: One hundred basepair paired-end reads sequenced from one DNA sample using an Illumina HiSeq 2000 platform.
Participants/Materials: One SCA31patient
| Dataset ID | Type of Data | Criteria | Release Date |
|---|---|---|---|
| JGAS000002 | NGS (WGS) | Controlled-access (Type I) | 2013/12/01 |
*Data users need to apply an application for Using NBDC Human Data to reach the Controlled-access Data. Learn more
MOLECULAR DATA
| Participants/Materials | 1 SCA31 patient |
| Targets | WGS |
| Target Loci for Captur Methods | - |
| Platform | Illumina [HiSeq 2000] |
| Library Source | gDNA extracted from peripheral blood cells |
| Cell Lines | - |
| Library Construction (kit name) | TrueSeq DNA Sample Prep Kit v2, Set A |
| Fragmentation Methods | Covaris E220 |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 100 bp |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD000002 |
| Total Data Volume | 149 GB (1,627,990,590 reads) |
| Comments (Policies) | NBDC policy |
DATA PROVIDER
Principal Investigator: Shinichi Morishita
Affiliation: Dept. of Computational Biology, Graduate School of Frontier Science, The Univ. of Tokyo
Project / Group Name:
Funds / Grants (Research Project Number):
| Name | Title | Project Number |
|---|---|---|
| KAKENHI Grant-in-Aid for Scientific Research on Innovative Areas | Exploring informatics for brain diseases based on personal genomics | 22129008 |
PUBLICATIONS
| Title | DOI | Dataset ID | |
|---|---|---|---|
| 1 | Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing | doi: 10.1093/bioinformatics/btt647 | JGAD000002 |
| 2 |
USERS (Controlled-access Data)
| Principal Investigator | Affiliation | Data in Use (Dataset ID) | Period of Data Use |
|---|---|---|---|
