NBDC Research ID: hum0020.v1



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


Data Set IDType of DataCriteriaRelease Date
JGAS00000000013 NGS (Exome) Controlled Access (Type I) 2015/01/08

*Release Note

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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 Covaris (S220)
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 100 bp
Japanese Genotype-phenotype Archive Data set ID JGAD00000000013
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.



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):

NameTitleProject Number
KAKENHI Grant-in-Aid for Scientific Research on Innovative Areas Elucidation of causative genes and pathogenesis of ALS through personal genome analysis 22129005



TitleDOIData Set ID


USERS (Controlled-Access Data)

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