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
2021
Full-length 16S rRNA gene amplicon analysis of human gut microbiota using MinION™ nanopore sequencing confers species-level resolution
Matsuo Y, Komiya S, Yasumizu Y, Yasuoka Y, Mizushima K, Takagi T, Kryukov K, Fukuda A, Morimoto Y, Naito Y, Okada H, Bono H, Nakagawa S, Hirota K. Full-length 16S rRNA gene amplicon analysis of human gut microbiota using MinION™ nanopore sequencing confers species-level resolution. BMC Microbiology 2021, 21: 35. PMID: 33499799, PMCID: PMC7836573, DOI: 10.1186/s12866-021-02094-5.Peer-Reviewed Original ResearchConceptsRRNA gene amplicon sequencingShort-read sequencingHuman gut microbiotaGene amplicon sequencingAmplicon sequencingRibosomal RNAGut microbiotaTaxonomic classificationBacterial communitiesBacterial compositionFull-length 16S rRNA geneShort-read sequencing methodsConventional short-read sequencing methodsDominant bacterial generaMock bacterial communityLong-read sequencingTaxonomic classification of bacteriaComplex bacterial communitiesRRNA gene analysisClassification of bacteriaComplex bacterial compositionHuman fecal samplesRRNA geneNanopore sequencingMicrobiome studies
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