NBDC Research ID: hum0070.v1

 

SUMMARY

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

Methods: Whole exome sequencing

Participants/Materials: 15 BHD-associated kidney cancers

 

Dataset IDType of DataCriteriaRelease Date
JGAS000115 NGS (Exome) Controlled-access (Type I) 2018/05/11

*Release Note

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

 

MOLECULAR DATA

JGAS000115

Participants/Materials

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 Dataset ID JGAD000125
Total Data Volume 485 GB (bam [ref: hg19])
Comments (Policies) NBDC policy

 

DATA PROVIDER

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), Japan Agency for Medical Research and Development (AMED) Elucidation of molecular pathogenesis and exploration for novel diagnostic marker and therapeutic target of Birt-Hogg-Dubé (BHD) syndrome-associated kidney cancer -

 

PUBLICATIONS

TitleDOIDataset 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 JGAD000125

 

USRES (Controlled-access Data)

Principal InvestigatorAffiliationCountry/RegionResearch TitleData in Use (Dataset ID)Period of Data Use
Maher Eamonn University of Cambridge United Kingdom of Great Britain and Northern Ireland Molecular Pathology of Human Genetic Disease JGAD000125 2023/03/19-2024/07/20