2025
CFTR haplotype phasing using long-read genome sequencing from ultralow input DNA
Gandotra N, Tyagi A, Tikhonova I, Storer C, Scharfe C. CFTR haplotype phasing using long-read genome sequencing from ultralow input DNA. Genetics In Medicine Open 2025, 3: 101962. PMID: 40027236, PMCID: PMC11869909, DOI: 10.1016/j.gimo.2025.101962.Peer-Reviewed Original ResearchLong-read genome sequencingSingle-nucleotide variantsHaplotype phasingGenome sequencePathogenic variantsSmall indelsShort-read genome sequencing dataDNA inputShort-read sequencingGenome sequence dataPoly-T tractRare pathogenic variantsGenetic disease screeningIdentified compound heterozygosityGenomic distanceLibrary preparationGenomic variantsAllelic phaseCystic fibrosis patientsSequence dataInput DNAGenotype concordanceGenomic DNAStructural variantsSingle-nucleotide
2023
Nucleic Acid Quantification by Multi-Frequency Impedance Cytometry and Machine Learning
Kokabi M, Sui J, Gandotra N, Khamseh A, Scharfe C, Javanmard M. Nucleic Acid Quantification by Multi-Frequency Impedance Cytometry and Machine Learning. Biosensors 2023, 13: 316. PMID: 36979528, PMCID: PMC10046493, DOI: 10.3390/bios13030316.Peer-Reviewed Original Research
2017
Microhaplotypes for ancestry prediction
Oldoni F, Hart R, Long K, Maddela K, Cisana S, Schanfield M, Wootton S, Chang J, Lagace R, Hasegawa R, Kidd K, Podini D. Microhaplotypes for ancestry prediction. Forensic Science International Genetics Supplement Series 2017, 6: e513-e515. DOI: 10.1016/j.fsigss.2017.09.209.Peer-Reviewed Original ResearchRandom match probabilityAncestry predictionLow mutation rateAllele frequenciesMH allelesMore SNPsParallel sequencingMutation rateAllelic combinationsIon S5Input DNAIon ChefMicrohaplotypesParental haplotypesLociMPS platformsSequencingAllelesMatch probabilityMinor contributorSTR profilesIndividual strands
1982
Bovine papillomavirus vector that propagates as a plasmid in both mouse and bacterial cells.
DiMaio D, Treisman R, Maniatis T. Bovine papillomavirus vector that propagates as a plasmid in both mouse and bacterial cells. Proceedings Of The National Academy Of Sciences Of The United States Of America 1982, 79: 4030-4034. PMID: 6287462, PMCID: PMC346570, DOI: 10.1073/pnas.79.13.4030.Peer-Reviewed Original ResearchConceptsMammalian cellsBacterial cellsInduce focus formationHuman beta-globin gene clusterBeta-globin gene clusterBPV DNADerivative of pBR322Mouse C127 cellsTransformation of bacteriaTransformed mouse cellsHuman beta-globin geneExtrachromosomal elementsGene clusterBeta-globin geneBovine papillomavirus vectorDeletion derivativesInput DNACellular genesRecombinant plasmidC127 cellsCopy numberMouse cellsTransformed cellsPlasmidFoci formation
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