NBDC Research ID: hum0070.v1



Aims: Identification of gene mutations in Birt-Hogg-Dube (BHD) associated kidney cancer

Methods: Whole exome sequencing

Participants/Materials: 15 BHD-associated kidney cancers


Data Set IDType of DataCriteriaRelease Date
JGAS00000000115 NGS (Exome) Controlled Access (Type I) 2018/05/11

*Release Note

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Birt-Hogg-Dube (BHD) associated kidney cancer: 15 cases

  29 kidney cancer samples and 15 normal kidney samples

Targets Exome
Target Loci for Capture Methods -
Platform Illumina [HiSeq 2000]
Library Source DNAs extracted from kidney cancer and matched normal kidney samples
Cell Lines -
Library Construction (kit name) Agilent SureSelect v.5 + lncRNA kit
Fragmentation Methods Ultrasonic fragmentation (Covaris S1)
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 100 bp
Japanese Genotype-phenotype Archive Data set ID JGAD00000000125
Total Data Volume 485 GB (bam [ref: hg19])
Comments (Policies) NBDC policy & P-DIRECT policy



Principal Investigator: Masahiro Yao

Affiliation: Department of Urology, Yokohama City University Graduate School of Medicine

Project / Group Name: -

Funds / Grants (Research Project Number):

NameTitleProject Number
Project for Development of Innovative Research on Cancer Therapeutics (P-DIRECT) Elucidation of molecular pathogenesis and exploration for novel diagnostic marker and therapeutic target of Birt-Hogg-Dubé (BHD) syndrome-associated kidney cancer -



TitleDOIData Set ID
1 BHD-associated kidney cancer exhibits unique molecular characteristics and a wide variety of variants in chromatin remodeling genes. doi: 10.1093/hmg/ddy181 JGAD00000000125


USRES (Controlled-Access Data)

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