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
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