{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"study_type":["Cancer Genomics"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001002413"],"host":["EGA"],"description":["EGA study EGAS00001002413"],"dataset_title":["Somatic mutations and clonal dynamics in healthy and cirrhotic human liver","Convergent somatic mutations in effectors of insulin signalling in chronic liver disease"],"category":["restricted"],"repository":["EGA"],"name_synonyms":["Livers, WGS., organ field, field, future organ, developmental field"],"description_synonyms":["Disease of liver, alcohol addiction, the integument, host organism, IPP2A2, Materials, pelt, single-organism developmental process, PhrB photolyase activity, HSN1E, Liver Dysfunction, Skn-li, Liver disorder in pregnancy NOS (disorder), postnatal development, Chronic Alcoholic Intoxication, Lasers, growth and development, Dependence, Tumor, pigmented epithelium, liver disease or disorder, Adiposis, alcohol, Mutations, 5730420M11Rik, Relative, Obese, Readability, Ethanol, unspecified, diseases, Microdissections, LIVER DISORDER NOS, 3, diseases and disorders, hepatic disorder, NUP96, epithelium, Alcohol Dependence, integumentum commune, hepatic disease, average, abuse, SET, Alcohol Use Disorder, human disease, Maser, Liver disorder in pregnancy (disorder), Disorder of liver (disorder), Man (Taxonomy), TAF-I, Tissue, [X]Diseases of the liver (disorder), dermoid system, pigmented retina, entire skin, iecur, Oncogeneses, squamous cell, aerodigestive tract cancer, disease of the liver (disorder), Liver Disorder, DNA cyclobutane dipyrimidine photolyase activity, disorder of liver, disease of liver, SUPPRESSOR OF AUXIN RESISTANCE 3, Continuous Wave, DmelCG4299, genetic, set, IGAAD, Abuse, Hepatopathy, DmelCG10574, malignant neoplasm, sample, Fam91a1, Otf11, Homo sapiens disease, Malignancies, AV220772, CXXC finger protein 9, skin and subcutaneous tissue, Intoxication, Tumors, disorder of liver (disorder), phapii, PRE, Liver, chronic alcoholic, Alcohol Addiction, Alcohol dependence, Alcohol, intoxication, Modern, deoxyribonucleic cyclobutane dipyrimidine photolyase activity, Arts, familial, Q Switched Lasers, Hepatic Disorder, StF-IT-1, Unspecified disorder of liver, integumental organ, disease or disorder of liver, Liver disorder NOS, Liver disorder in pregnancy unspecified (disorder), Benign, retinal pigment, alcoholic intoxication, BC033609, Relative Risks, Diseases, Obesity [Ambiguous], Obese (finding), dipyrimidine photolyase (photosensitive), OBESITY, Genetic Materials, simple tissue, Dysfunction, Liver disorder NOS (disorder), retinal pigment layer, Liver Disease, Genetic Material, non-neoplastic., Q-Switched Laser, ADCADN, Industrial, Industrial Arts, alcohol use disorder, HLA-DR-associated protein II, Risk, UNQ203/PRO229, DI-2, DNA (cytosine-5-)-methyltransferase 1, I-2Dm, susceptibility to, Benign Neoplasms, alcoholism, Adiposity, alcohol dependence, Pulsed Laser, whole genome, CG4299, human, mKIAA0493, Malignant Neoplasms, disease of liver [Ambiguous], I-2PP1, disease, phr A photolyase activity, vertebrate epidermis, Q-Switched, DNA-photoreactivating enzyme, TAF-IBETA, Oncogenesis, Patient, Material, Alcohol Use Disorders, [X]Diseases of the liver, Cistron, Addiction, TAF-Ibeta, inherited genetic, entire integument, Laser, Disorder of liver, dermal system, liver disorder, i2pp2a, Gruppe, dermis plus epidermis plus hypodermis, other disease, LIVER DIS, region of skin, Tumorigeneses, Liver and Intrahepatic Bile Duct Disorder, human being, Otf-11, Neoplasms, Benign Neoplasm, Goal, obesity disease, Gene, Dysfunctions, photoreactivating enzyme activity, Malignant, Ethanol Abuse, Alcohol addiction, PHAPII, epidermis, Human, jecur, Obesity, Aim, AIM, Liver Dysfunctions, Liver disease, Homo sapiens, Pulsed, chronic alcoholic intoxication, Chronic Alcoholic, disease or disorder, stratum pigmentosa retinae, Masers, liver and intrahepatic bile duct disorder, Man, Skn-1a, DNMT1, liver disorder antepartum, MOS3, deoxyribocyclobutadipyrimidine pyrimidine-lyase activity, skin, Pulsed Lasers, Genetic, Malignancy, PRECOCIOUS, DNMT1_HUMAN, Having too much body fat, ipp2a2, F23A5.3, 2pp2a, Overweight and obesity, dependence, SKIN, CG10574, Alcoholic Intoxication, non-neoplastic, Neoplasias, API6, skin organ, Continuous Wave Laser, Q-Switched Lasers, unspecified as to episode of care, 2PP2A, grupos, taf-ibeta, Clients, dSET, dSet, Chronic, disorder, constitutitional genetic, F23A5_3, Cancer, DNA MTase HsaI, DNA (cytosine-5)-methyltransferase 1, ALCOHOLIC INTOX CHRONIC, Disease, Oct-11a, grupo, Malignant Neoplasm, Continuous Wave Lasers, DNMT, disorders, igaad, skin zone, medical condition, MCMT, Alcohol Abuse, Tumorigenesis, Cistrons, Client, Cell, chronic, light amplification by the stimulated emission of radiation, obesity, group, development, skin plus hypodermis, liver disease, MODIFIER OF SNC1, Liver disorder in pregnancy, Oct11, skin region, MT, addiction, I-2PP2A, DNA methyltransferase HsaI, Dm I-2, deoxyribonucleic photolyase activity, I2PP2A, Neoplasm, sequence, condition, Skin-1a, tegument, liver disorder in pregnancy - delivered, Skin, Liver Diseases, obesity disorder, LD - Liver disease, Obesity (disorder), Relative Risk, skin benign neoplasm, CXXC9, Liver disorder in pregnancy - delivered (disorder), primary cancer, RPE, CT-2, ensemble, photolyase activity, Obesity NOS, Risks, with delivery, postnatal growth, Carcinogeneses, Rest, vertebrate integument, patient, Use Disorders, Cancers, Understanding, malignant tumor, CXXC-type zinc finger protein 9, sample population, primary structure of sequence macromolecule, Epoc-1, p. pigmentosa retinae, Livers, portion of skin, dSET/TAF-Ibeta, 2610030F17Rik, Alcoholism, integument, Modern Man, protection against, deoxyribonucleate pyrimidine dimer lyase (photosensitive), alcohol-related, AA407739, growth, hereditary, groupe, Neoplasia, CLEC2C, m.HsaI"],"additional_accession":[]},"is_claimable":false,"name":"Field effect of healthy and diseased livers WGS","description":"Recent work in the Campbell group has revealed somatic mutations present in normal, non-cancerous human skin. A subset of the mutations conferred selective advantages to the host cells, leading to clonal expansions and raising the risk for future cancer development. Capturing such somatic mutations in normal tissue is important to advance our understanding about carcinogenesis and could provide prospective medical insights. \n\nIn this project, our goal is to detect somatic mutations in normal (pre-cancerous) liver tissue. Using Laser Microdissection technology, we will dissect individual liver lobules from patient samples and submit these to sequencing. For each patient sample, we aim to sequence multiple lobules to characterise the mutagenic burden. Samples will be taken from patients with different liver disease aetiologies, including alcoholism and obesity, with a view on distinguishing the prevalent mutation types occurring in each disease context.\n\nWe will perform both whole genome and targeted sequencing, initially using the WTSI cancer panel. Later we aim to use a novel bait set that captures both cancer genes as well as genes relevant to the non-cancerous samples (ie. genes implicated in hereditary disorders, immune sequences).","dates":{"updated":"2021-08-18 13:40:41"},"accession":"EGAS00001002413","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAD00001004578","EGAD00001006255","EGAC00001000000"]}}