NBDC Research ID: hum0426.v1

 

SUMMARY

Aims: This study aims to 1) identify unknown causative genes, modifier genes, and their mutations in cancers suspected to be hereditary, and 2) accumulate knowledge on genotype-phenotype relationships, based on a multicenter cooperative system and network for genetic diagnosis of hereditary tumors.

Methods: DNA sequencing using adaptive sampling with GridION nanopore sequencer

Participants/Materials: 33 cases of hereditary cancer syndromes (blood)

 

Dataset IDType of DataCriteriaRelease Date
JGAS000654 NGS (WGS) Controlled-access (Type I) 2024/08/01

*Release Note

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MOLECULAR DATA

JGAS000654

Participants/Materials

hereditary cancer syndromes (ICD10: C00-C97): 33 cases

     peripheral blood cells (normal leukocytes): 33 samples

Targets WGS
Target Loci for Capture Methods -
Platform Nanopore [GridION]
Library Source DNAs extracted from peripheral blood cells
Cell Lines -
Library Construction (kit name) SQK-LSK110 or SQK-LSK114
Fragmentation Methods Covaris g-TUBE
Spot Type Single-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) N50 is approximately 600 bp (N50 of reads sequenced as long-read is approximately 9,000 bp).
Japanese Genotype-phenotype Archive Dataset ID JGAD000784
Total Data Volume 270.7 GB (fastq)
Comments (Policies) NBDC policy

 

DATA PROVIDER

Principal Investigator: Yuichi Shiraishi

Affiliation: Division of Genome Analysis Platform Development, National Cancer Center Research Institute

Project / Group Name: -

Funds / Grants (Research Project Number):

NameTitleProject Number
National Cancer Center Research and Development Funds Establishing a Research Foundation and Verifying Clinical Utility Using Long-Read Sequencing 2021-A-3

 

PUBLICATIONS

TitleDOIDataset ID
1 Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes. doi: 10.1038/s41525-024-00394-z JGAD000784
2

 

USRES (Controlled-access Data)

Principal InvestigatorAffiliationCountry/RegionResearch TitleData in Use (Dataset ID)Period of Data Use