PUBLICATIONS : {PUBLICATION={DB_TYPE=DOI, id=10.1038/s41586-019-1844-5, status=published}}

DESCRIPTOR : {STUDY_TITLE=Somatic inflammatory gene mutations accumulate in human ulcerative colitis epithelium, STUDY_ABSTRACT=We performed whole exome sequencing and targeted sequencing of ulcerative colitis with/without colitis associated neoplasm and healthy indivisuals. The aim of this study was to calculate the influence of inflammation and age on a count of genetic mutations in colonic epithelium, and to identify the specific signal pathways on which the significant genetic mutations accumulating in ulcerative colitis patients' colonic epithelium., STUDY_TYPES={STUDY_TYPE=[{existing_study_type=Exome Sequencing}, {existing_study_type=Case-Control}, {new_study_type=Target Capture Sequencing, existing_study_type=Other}]}}

center_name : Individual

alias : JSUB000292_Study_0001

IDENTIFIERS : {SECONDARY_ID=JGAS00000000199}

accession : JGAS000199

STUDY_ATTRIBUTES : {STUDY_ATTRIBUTE=[{TAG=NBDC Number, VALUE=hum0201}, {TAG=Registration date, VALUE=2019-08-27}, {TAG=Submitting organization, VALUE=Department of Organoid Medicine, Keio University School of Medicine}, {TAG=Principal Investigator, VALUE=Toshiro Sato}, {TAG=Molecular Data Type, VALUE=Whole Exome Sequencing}, {TAG=Platform, VALUE=HiSeq 2500, HiSeq 4000}, {TAG=Vendor, VALUE=Illumina}, {TAG=Comment, VALUE=null}, {TAG=Primary Phenotype, VALUE=Ulcerative colitis (HP:0100279)}, {TAG=Phenotype, VALUE=Colon cancer (HP:0003003)}, {TAG=IDC-10 Disease Classification, VALUE=Ulcerative colitis (K51)}, {TAG=IDC-10 Disease Classification, VALUE=Malignant neoplasm of colon???? (C18)}, {TAG=IDC-10 Disease Classification, VALUE=Malignant neoplasm of rectosigmoid junction (C19)}, {TAG=IDC-10 Disease Classification, VALUE=Malignant neoplasm of rectum (C20)}]}