EGAGenomicsWhole Genome Sequencinghttps://ega-archive.org/studies/EGAS00001007249EGAEGA study EGAS00001007249The dataset for Detecting Liver Cancer Using Cell-Free DNA FragmentomesEGArestrictedHYCC1, Carcinomas, Carcinoma, DRCTNNB1A, Complete, Liver, Whole Genome, Risk, Adult Liver Cancers, Hepatocellular carcinoma, Liver Cancer, Hepatoma, Risks, Complete Genome Sequencing, Genome Sequencing, adult primary hepatocellular carcinoma, Liver Cancers, Cell Carcinoma, HLD5, Liver Cell, Cancers, adult hepatoma, Adult, Hepatomas, Client, Liver Cell Carcinoma, Sequencing, Hepatocellular Carcinoma, Relative, Cell Carcinomas, Complete Genome, Patient, HCC, Liver Cell Carcinomas, Clients, Whole, Relative Risks, Adult Liver Cancer, Hepatocellular., Adult Liver, Hepatocellular Carcinomas, Relative Risk, CancerEuropean Economic Community, Common Markets, primary tumour of the liver, adult hepatoma, hepatic, Tumor, Hepatomas, hepatocellular carcinoma plus intrahepatic cholangiocarcinoma, Liver Cell Carcinoma, primary liver cancer, Case Fatality Rates, inadequate, Relative, dmTAF[[II]]230, Death Rates, School-Age, Techniques, Method, CIRRH, symptoms, European Coal and Steel Community, Excess Mortalities, Transfer, Chromatins, Liver cirrhosis, European Common Market, European Economic, not specified as primary or secondary, average, thymus nucleic acid, DRCTNNB1A, Hepatic Cancer, TFIID TAF250, Genomes, Crude Mortality Rates, cel, Union, Machine, Economic Community, adult primary hepatocellular carcinoma, U.S., HLD5, procedures, Adult, hepatic cancer, free, Hepatocellular Carcinoma, allergic reaction, Methodological Studies, malignant neoplasm, CFR Case Fatality Rate, chromosome scaffold, Malignancies, Double-Stranded DNA, Cancer of the Liver, deoxyribonucleic acids, Age-Specific Death Rate, DNAn, hepatic neoplasm, liver Cancer, Tumors, nuclear chromatin, screening, Carcinoma, dTAF[[II]]230, Communities, Liver, Viral, Learning, Cancer of Liver, primary cancer of liver, Crude Death, Viral hepatitis, TAF200, liver Cancers, New Territories, Liver Cell, Double-Stranded, Procedure, TAFII-250, TAF250/230, results, Crude Mortality, Binding, (Deoxyribonucleotide)n+m, TAFII250, Mortality, Benign, HCC, European, School Age, Liver Neoplasm, Market, Relative Risks, Common, Cirrhosis, Adult Liver, desoxyribose nucleic acid, Carcinomas, Populations, European Economic Communities, death rate, Risk, Hepatoma, non-resectable primary hepatic malignant neoplasm, European Atomic Energy Community, signs, Benign Neoplasms, Mortalities, Methodological, whole genome, CG17603, Methodological Study, TAF[[II]], Viral hepatitis with hepatic coma (disorder), Malignant Neoplasms, neoplasm of liver, viral hepatitis, Mortality Rate, Crude Death Rate, Taf250, Specificity and Sensitivity, Patient, SR3-5, Hepatocellular Cancers, ds DNA, Cancer of liver, School-Age Population, DNA, Mortality Determinant, Hepatocellular Carcinomas, TAF230, Community, Malignant Neoplasms., HYCC1, Unspecified viral hepatitis with hepatic coma, cytoplasmic chromatin, d230, NEOPL LIVER, DNS, Procedures, Kowloon, resectable malignant neoplasm of the liver, (Deoxyribonucleotide)n, Common Market, Mortality Declines, Neoplasms, Benign Neoplasm, Hepatitis, Excess, Cell Carcinoma, dTAFII250, Crude Mortality Rate, Hepatic Neoplasm, unspecified viral hepatitis with hepatic coma, Malignant, mortality measurement, EfW1, Deoxyribonucleic acids, Age-Specific Death, Mortality Determinants, Crude, Cell Carcinomas, liver, Rate, Determinant, Deoxyribonucleic Acid, dmTAF1, Liver Cell Carcinomas, Taf230, sensitive, Sites, Studies, Adult Liver Cancer, Case Fatality, Fibroses, Animal, Technique, sensitivity, primary, TAF250, Site, Differential Mortality, study, School-Age Populations, Transfer Learning, Taf200, Excess Mortality, dTAF[[II]]250, Liver Cancer, Malignancy, primary malignant neoplasm of Liver, cell, Cancer of the liver, Liver Cancers, Hepatic Neoplasms, Double Stranded, Taf1p, Deoxyribonucleic acid, malignant neoplasm of liver, Age-Specific, Population, European Communities, Neoplasias, Study, dTAF250, Combining Site, malignant hepato-biliary neoplasm, Resectable malignant neoplasm of Liver, primary malignant neoplasm of liver, time of survival, viral hepatitis with hepatic coma, Clients, Mortality Rates, mortality rate, Crude Death Rates, Hepatic, Sensitivity, (Deoxyribonucleotide)m, School Age Population, TAF, Combining Sites, Age Specific Death Rate, Economic Communities, Cancer, TAF[[II]]250, Hongkong, findings, Malignant Neoplasm, Hepatic Cancers, Mortality Decline, European Common Markets, primary tumor of the liver, DNAn+1, l(3)84Ab, BG:DS00004.13, Binding Site, Client, Cell, dTAF230, EEC, Case Fatality Rate, MT, survival, p230, liver cirrhosis, Neoplasm, TAF[[II]]250/230, TFIID, techniques, ds-DNA, Determinants, Death, Relative Risk, Taf[[II]]250, Rates, Death Rate, ca liver - primary, primary cancer, United States of America, TAF[[II]]230, Adult Liver Cancers, Hepatocellular carcinoma, Risks, Specificity, Combining, TAF[II]250, Cancers, malignant tumor of liver, Age-Specific Death Rates, Euratom, malignant tumor, School Age Populations, European Common, Differential, DmelCG17603, European Community, Ca liver - primary, Hepatocellular, LIVER NEOPL, Decline, Desoxyribonukleinsaeure, Hepatocellular Cancer, Neoplasia, Differential Mortalities, methodology, TAF1falseWhole genome sequencing of patients with or at risk for HCCLiver cancer is a major cause of cancer mortality worldwide. Screening individuals at high risk, including those with cirrhosis and viral hepatitis, provides an avenue for improved survival, but current screening methods are inadequate. In this study, we used whole-genome cell-free DNA (cfDNA) fragmentome analyses to evaluate 724 individuals from the United States, the European Union, or Hong Kong with hepatocellular carcinoma (HCC) or who were at average or high-risk for HCC. Using a machine learning model that incorporated multifeature fragmentome data, the sensitivity for detecting cancer was 88% in an average-risk population at 98% specificity and 85% among high-risk individuals at 80% specificity. We validated these results in an independent population. cfDNA fragmentation changes reflected genomic and chromatin changes in liver cancer, including from transcription factor binding sites. These findings provide a biological basis for changes in cfDNA fragmentation in patients with liver cancer and provide an accessible approach for noninvasive cancer detection.2023-06-13 14:22:01EGAS000010072499606EGAD00001010931EGAC00001003279