NBDC Research ID: hum0008.v1



Aims: Research for genetic causes and mechanisms of Hirschsprung's diseases.

Methods: Perform whole exome sequencing using genome DNA from patients with Hirschsprung's diseases or their families and explore candidate genes.

Participants/Materials: Patients with Hirschsprung's diseases and their families


Data Set IDType of DataCriteriaRelease Date
JGAS00000000007 NGS (Exome) Controlled Access (Type I) 2018/01/29

*Release Note

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Patients with Hirschsprung's diseases (5 cases) and their families (6 cases)

(Total 4 sets about 11 cases)

Targets Exome
Target Loci for Capture Methods -
Platform Illumina [HiSeq 2000]
Library Source DNA extracted from peripheral blood cells
Cell Lines -
Library Construction (kit name) SureSelect Human All Exon 50 Mb Kit (Agilent)
Fragmentation Methods Ultrasonic fragmentation (Covaris)
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 100 bp
Japanese Genotype-phenotype Archive Data set ID JGAD00000000007
Total Data Volume 113 GB (88 files)
Comments (Policies) NBDC policy



Principal Investigator: Hiroshi Matsufuji

Affiliation: Graduate School of Medical and Dental Sciences, Kagoshima University, Graduate School of Medicine

Project / Group Name: -

Funds / Grants (Research Project Number):

NameTitleProject Number
- - -



TitleDOIData Set ID
1 Identification of a novel variant of the RET proto-oncogene in a novel family with Hirschsprung's disease. doi: 10.1007/s00383-017-4134-z JGAD00000000007


USERS (Controlled-Access Data)

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