NBDC Research ID: hum0010.v1



Aims: Identification of candidate genes for splenic epidermoid cyst.

Methods: Whole exome sequence analysis using Illumina HiSeq 2000.

Participants/Materials: Patients of splenic epidermoid cyst.


Data Set IDType of DataCriteriaRelease Date
JGAS00000000008 NGS (Exome) Controlled Access (Type I) 2015/6/23

*Release Note 

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Participants/Materials 8 patients of splenic epidermoid cyst
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 Ultrasonic fragmentation (Covaris)
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 150 bp
Japanese Genotype-phenotype Archive Data set ID JGAD00000000008
Total Data Volume 84 GB (16 files)
Comments (Policies) NBDC policy



Principal Investigator: Matsufuji Hiroshi

Affiliation: Kagoshima University Graduate School of Medical and Dental Sciences

Project / Group Name: -

Funds / Grants (Research Project Number):

NameTitleProject Number
- - -



TitleDOIData Set ID
1 Genome-wide linkage and exome analyses identify variants of HMCN1 for splenic epidermoid cyst. doi: 10.1186/s12881-014-0115-4 JGAD00000000008


USERS (Controlled-Access Data)

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