EGAGenomicsAdam Santaniellohttps://ega-archive.org/dacs/EGAC00001000065EGAEGA DAC EGAC00001000065EGAAdam.Santaniello@ucsf.edu<h4>Background</h4>A detailed analysis of whole genomes can be now achieved with next generation sequencing. Epstein Barr Virus (EBV) transformation is a widely used strategy in clinical research to obtain an unlimited source of a subject's DNA. Although the mechanism of transformation and immortalization by EBV is relatively well known at the transcriptional and proteomic level, the genetic consequences of EBV transformation are less well understood. A detailed analysis of the genetic alterations introduced by EBV transformation is highly relevant, as it will inform on the usefulness and limitations of this approach.<h4>Results</h4>We used whole genome sequencing to assess the genomic signature of a low-passage lymphoblastoid cell line (LCL). Specifically, we sequenced the full genome (40X) of an individual using DNA purified from fresh whole blood as well as DNA from his LCL. A total of 217.33 Gb of sequence were generated from the cell line and 238.95 Gb from the normal genomic DNA. We determined with high confidence that 99.2% of the genomes were identical, with no reproducible changes in structural variation (chromosomal rearrangements and copy number variations) or insertion/deletion polymorphisms (indels).<h4>Conclusions</h4>Our results suggest that, at this level of resolution, the LCL is genetically indistinguishable from its genomic counterpart and therefore their use in clinical research is not likely to introduce a significant bias.In depth comparison of an individual's DNA and its lymphoblastoid cell line using whole genome sequencing.Nickles Dorothee D, Madireddy Lohith L, Yang Shan S, Khankhanian Pouya P, Lincoln Steve S, Hauser Stephen L SL, Oksenberg Jorge R JR, Baranzini Sergio E SEthymus nucleic acid, Whole Genome, DNS, (Deoxyribonucleotide)n, DNAn+1, Complete Genome Sequencing, Genome Sequencing, Double Stranded, Deoxyribonucleic acid, Double-Stranded, Sequencing, Deoxyribonucleic acids, (Deoxyribonucleotide)n+m, Complete., Complete Genome, Deoxyribonucleic Acid, lymphoblastoid cell, Whole, ds DNA, Desoxyribonukleinsaeure, Double-Stranded DNA, (Deoxyribonucleotide)m, DNA, deoxyribonucleic acids, DNAn, ds-DNA, desoxyribose nucleic acidScientific Bias, DNS, Activity, determination, (Deoxyribonucleotide)n, Laboratory, Ecological Fallacy, Blood, Truncation, number, Systematic Bias, Epstein-Barr virus, Outcome Measurement., presence, E-B Virus, Deoxyribonucleic acids, limitations, gDNA, Human, Deoxyribonucleic Acid, Core Genome, PBMC, Epidemiologic Biase, Line, Ecological, Low, Burkitt Lymphoma Virus, Research Activity, study limitations, Mononucleosis Viruses, Laboratory Research, Priorities, Fallacies, average, Ecological Biases, thymus nucleic acid, me75, Complete, Burkitt, Whole Genome, Genomes, Research, Accessory Genome, Aggregation, Complete Genome Sequencing, Double Stranded, Deoxyribonucleic acid, EBV, D17Mit170, Sequencing, T1, genetic, Burkitt Herpesvirus, HHV-4, Statistical Biases, Whole, Ecological Bias, Double-Stranded DNA, Human herpesvirus type 4, Development and Research, (Deoxyribonucleotide)m, Systematic, Research Priority, deoxyribonucleic acids, DNAn, constitutitional genetic, Epidemiologic Biases, Biase, Infectious Mononucleosis Viruses, Fallacy, cou, whole blood, Scientific, DNAn+1, Epidemiologic, Burkitt's Lymphoma Virus, familial, Genome Sequencing, Cell Lines, Infectious, Research Priorities, Truncation Biases, Double-Stranded, Ecological Fallacies, Tl3, Tl2, Pangenome, results, Cell, Human herpesvirus 4, Herpesvirus, (Deoxyribonucleotide)n+m, Outcome Measurement Errors, count in organism, Epstein-Barr Virus, Priority, Lr, Experimental, Complete Genome, chemical analysis, Epstein Barr Virus, Research Activities, sequence, Errors, background, ds-DNA, Truncation Bias, desoxyribose nucleic acid, E-B Viruses, Mononucleosis Virus, Lines, Epstein-Barr virus EBV, Research and Development, Burkitts Lymphoma Virus, Bias, Peripheral Blood, Epstein Barr virus, INS, Biases, whole genome, Outcome Measurement, primary structure of sequence macromolecule, introduction, E B Virus, Human Herpesvirus 4, Activities, Reticuloendothelial System, Experimental Bias, Outcome Measurement Error, Pan-genome, lymphoblastoid cell, Error, DEL, Aggregation Bias, PBMCs, Infectious Mononucleosis Virus, ds DNA, cardinality, Statistical Bias, Herpesvirus 4 (gamma), Desoxyribonukleinsaeure, Bra, inherited genetic, assay, Lymphoma Virus, DNA, Statistical, hereditaryfalselegitimate academic institutions need to comply with terms of Data Access Agreement to access EGAS00001000323Data Access Committee EGAC00001000065EGAC00001000065960622974163EGAS00001000323EGAD00001000693