2019
Haplotype-resolved and integrated genome analysis of the cancer cell line HepG2
Zhou B, Ho S, Greer S, Spies N, Bell J, Zhang X, Zhu X, Arthur J, Byeon S, Pattni R, Saha I, Huang Y, Song G, Perrin D, Wong W, Ji H, Abyzov A, Urban A. Haplotype-resolved and integrated genome analysis of the cancer cell line HepG2. Nucleic Acids Research 2019, 47: 3846-3861. PMID: 30864654, PMCID: PMC6486628, DOI: 10.1093/nar/gkz169.Peer-Reviewed Original ResearchConceptsGenome sequenceStructural variantsGenomic structural featuresSomatic genomic rearrangementsFunctional genomics dataAllele-specific expressionEntire chromosome armsIntegrated genome analysisCRISPR/Cas9Cell linesMain cell linesGenome structureEpigenomic characteristicsChromosome armsGenome analysisDNA methylationGenome characteristicsRetrotransposon insertionChromosomal segmentsGenomic rearrangementsGenomic dataRegulatory complexityCell line HepG2Copy numberLoss of heterozygosityComprehensive, integrated, and phased whole-genome analysis of the primary ENCODE cell line K562
Zhou B, Ho S, Greer S, Zhu X, Bell J, Arthur J, Spies N, Zhang X, Byeon S, Pattni R, Ben-Efraim N, Haney M, Haraksingh R, Song G, Ji H, Perrin D, Wong W, Abyzov A, Urban A. Comprehensive, integrated, and phased whole-genome analysis of the primary ENCODE cell line K562. Genome Research 2019, 29: 472-484. PMID: 30737237, PMCID: PMC6396411, DOI: 10.1101/gr.234948.118.Peer-Reviewed Original ResearchConceptsWhole-genome analysisStructural variantsFunctional genomicsEpigenomic dataAllele-specific DNA methylationComprehensive whole-genome analysisWhole-genome bisulfite sequencing dataGenomic structural featuresCopy numberLinked-read sequencingAllele-specific expressionEntire chromosome armsBisulfite sequencing dataAllele-specific deletionsComplex structural variantsTumor suppressor geneEpigenomic characteristicsChromosome armsGenome sequenceChromosome segmentsDNA methylationRNA-seqGenome characteristicsRetrotransposon insertionGenomic variant information
2015
Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms
Abyzov A, Li S, Kim DR, Mohiyuddin M, Stütz AM, Parrish NF, Mu XJ, Clark W, Chen K, Hurles M, Korbel JO, Lam HY, Lee C, Gerstein MB. Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms. Nature Communications 2015, 6: 7256. PMID: 26028266, PMCID: PMC4451611, DOI: 10.1038/ncomms8256.Peer-Reviewed Original ResearchConceptsNon-allelic homologous recombinationTemplate-switching eventsGenomic structural variantsDeletion breakpointsHi-C interactionsNon-homologous mechanismsRelaxed selectionGenomic averageHistone marksOpen chromatinGenomic sitesGermline cellsDNA replicationCell divisionDNA methylationHomologous recombinationGenome ProjectStructural variantsBasepair resolutionNearby SNPsMutation mechanismMicroinsertionsBreakpointsChromatinIndels