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
2011
High-quality DNA sequence capture of 524 disease candidate genes
Shen P, Wang W, Krishnakumar S, Palm C, Chi AK, Enns GM, Davis RW, Speed TP, Mindrinos MN, Scharfe C. High-quality DNA sequence capture of 524 disease candidate genes. Proceedings Of The National Academy Of Sciences Of The United States Of America 2011, 108: 6549-6554. PMID: 21467225, PMCID: PMC3080966, DOI: 10.1073/pnas.1018981108.Peer-Reviewed Original ResearchConceptsGenome informationCandidate genomic regionsCopy number differencesHigh GC contentPadlock probesMolecular diagnosticsSingle nucleotide changeExon-level resolutionDisease candidate genesMitochondrial genesGenomic regionsSequence captureOrnithine transcarbamylase deficiencyGC contentOTC geneCandidate genesDNA variantsExon captureGenomic DNANucleotide changesSample processingStructural variantsGenesSequence verificationDNA samples