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 HiSeq2000 platform.

Participants/Materials: One SCA31patient

 

Data Set IDType of DataCriteriaRelease Date
JGAS00000000002 NGS (WGS) Controlled Access (Type I) 2013/12/01

*Release Note

* 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

JGAS00000000002

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 Data set ID JGAD00000000002
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):

NameTitleProject Number
KAKENHI Grant-in-Aid for Scientific Research on Innovative Areas Exploring informatics for brain diseases based on personal genomics 22129008

 

PUBLICATIONS

TitleDOIData Set ID
1 Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing doi: 10.1093/bioinformatics/btt647 JGAD00000000002
2

 

USERS (Controlled-Access Data)

PIAffiliationData in Use (Data Set ID)Period of Data Use