{"id":"hum0048","version":1,"url":"https://humandbs.dbcls.jp/research/hum0048/v1","datePublished":"2016-02-05","versions":[{"version":1,"datePublished":"2016-02-05"}],"title":{"ja":"次世代シークエンサーを用いた十二指腸・ファーター乳頭部腫瘍の全遺伝子のエクソン解析","en":"Whole exome sequencing on ampullary carcinomas"},"summary":{"aims":{"ja":"国際多施設共同研究によって、ファーター乳頭部腫瘍の分子遺伝学的な特徴を明らかにし、治療法の開発に貢献する。","en":"The genomic biology of ampullary carcinomas is currently poorly defined, we have conducted an in-depth analysis of the genomic abnormalities of these carcinomas through an international multicenter collaboration to establish a potential basis for treatments of this disease."},"methods":{"ja":"イルミナHiSeq 2000および2500を使用し、60名のファーター乳頭部がんの全エクソン解析を実施。","en":"Whole exome sequencing was performed on the Illumina HiSeq 2000/2500 platforms in a discovery set of 60 ampullary carcinomas."},"targets":{"ja":"臨床・病理的に診断されたファーター乳頭部腫瘍60症例（日本人28症例、米国人32症例）","en":"We investigated a large cohort of clinically and pathologically well-characterized patients with ampullary cancer that included 28 Japanese patients and 32 American patients."},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"ファーター乳頭部癌：60症例\n（日本人、米国人）","en":"60 Patients with ampullary cancer\n(28 Japanese patients and 32 American patients)"},"typeOfData":{"ja":"NGS\n（Exome）","en":"NGS\n(Exome)"}},"releaseNote":{"ja":"このバージョンでは、ファーター乳頭部がん60症例（日本人28症例、米国人32症例）について、腫瘍組織から抽出したgDNAを使用したExome解析の結果をFastqファイルにて提供する。\nIllumina (HiSeq 2000および2500)を用いて平均長2 x 100塩基のDNA断片を解読した（Paired-end）。","en":"gDNAs extracted from ampullary carcinomas obtained from 60 patients (28 Japanese patients and 32 American patients) were used for the whole exome sequencing (fastq files). DNA fragments containing whole coding exons were concentrated using SureSelect Human All Exon Kit v4.0 (Agilent Technologies) and multiplex sequence was performed with the Illumina HiSeq 2000 / 2500 sequencer (2 x 100 bp, Paired-end)."},"dataProviders":[{"name":{"ja":"谷内田 真一","en":"Shinichi Yachida"},"organization":{"name":{"ja":"国立がん研究センター研究所・臨床ゲノミクス研究ユニット、大阪大学大学院 医学系研究科 医学部 ゲノム生物学講座 がんゲノム情報学","en":"Laboratory of Clinical Genomics, National Cancer Center Research Institute / Department of Cancer Genome Informatics, Graduate School of Medicine/Faculty of Medicine, Osaka University"}}}],"researchProjects":[],"grants":[{"title":{"ja":"システム生物学的アプローチによる希少がんの分子病態解明と臨床病態の予測","en":"Molecular pathological analysis and prediction of clinical course of a rare tumor by systematic approach to biology"},"agency":{"ja":"科学研究費助成事業 新学術領域研究","en":"KAKENHI Grant-in-Aid for Scientific Research on Innovative Areas"},"grantIds":["25134719"]}],"relatedPublications":[{"title":"Genomic Sequencing Identifies ELF3 as a Driver of Ampullary Carcinoma","doi":"https://doi.org/10.1016/j.ccell.2015.12.012","datasets":["DRA004251"]}],"datasets":["DRA004251"],"controlledAccessUsers":[]}