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
JGAS000009	NGS (Exome)	Controlled Access (Type I)	2015/02/03

* Data users need to apply an application for Using NBDC Human Data to reach the Controlled-access Data.

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	JGAD000009
Total Data Volume	260 GB
Comments (Policies)	NBDC policy

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

	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	JGAD000009
2

Principal Investigator:	Affiliation:	Data in Use (Data Set ID)	Period of Data Use