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 ID | Type of Data | Criteria | Release Date |
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JGAS000654 | NGS (WGS) | Controlled-access (Type I) | 2024/08/01 |
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MOLECULAR DATA
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):
Name | Title | Project Number |
---|---|---|
National Cancer Center Research and Development Funds | Establishing a Research Foundation and Verifying Clinical Utility Using Long-Read Sequencing | 2021-A-3 |
PUBLICATIONS
Title | DOI | Dataset 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 Investigator | Affiliation | Country/Region | Research Title | Data in Use (Dataset ID) | Period of Data Use |
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