{"id":"hum0426","version":1,"url":"https://humandbs.dbcls.jp/research/hum0426/v1","datePublished":"2024-08-01","versions":[{"version":1,"datePublished":"2024-08-01"}],"title":{"ja":"家族性・若年性のがん及び遺伝性腫瘍に関する診断と研究","en":"Diagnosis and Research on Familial, Young-onset and Hereditary Cancers"},"summary":{"aims":{"ja":"遺伝性腫瘍の遺伝診療における多施設連携体制・ネットワークを基盤として以下の2点を目的とする。1）遺伝性が疑われる未知のがん原因遺伝子や修飾遺伝子及びその変異の同定、2）遺伝子型と表現型の関連に関する知識の集積","en":"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":{"ja":"ナノポアシークエンサーGridIONによるAdaptive samplingを用いたDNAシークエンス","en":"DNA sequencing using adaptive sampling with GridION nanopore sequencer"},"targets":{"ja":"遺伝性腫瘍33症例（正常白血球）","en":"33 cases of hereditary cancer syndromes (blood)"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"遺伝性腫瘍：33症例\n（日本人）","en":"hereditary cancer syndromes: 33cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（WGS）","en":"NGS\n(WGS)"}},"releaseNote":{"ja":"遺伝性腫瘍33症例の末梢血（正常白血球）より抽出したDNAを用いたナノポアGridIONによるAdaptive Sampling解析データをfastqファイルにて提供する。","en":"DNAs extracted from normal leucocytes from hereditary cancer syndrome patients were used for adaptive sampling sequencing with GridION. Fastq files are provided."},"dataProviders":[{"name":{"ja":"白石 友一","en":"Yuichi Shiraishi"},"organization":{"name":{"ja":"国立がん研究センター研究所 ゲノム解析基盤開発分野","en":"Division of Genome Analysis Platform Development, National Cancer Center Research Institute"}}}],"researchProjects":[],"grants":[{"title":{"ja":"長鎖シークエンスを用いた研究基盤の構築と臨床的有用性の検証","en":"Establishing a Research Foundation and Verifying Clinical Utility Using Long-Read Sequencing"},"agency":{"ja":"国立がん研究センター研究開発費","en":"National Cancer Center Research and Development Funds"},"grantIds":["2021-A-3"]}],"relatedPublications":[{"title":"Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes.","doi":"https://doi.org/10.1038/s41525-024-00394-z","datasets":["JGAD000784"]}],"datasets":["JGAD000784"],"controlledAccessUsers":[]}