Publication | Open Access

Identification and characterization of two DMD pedigrees with large inversion mutations based on a long-read sequencing pipeline

Long-read SequencingGenetic DisorderLong-read Sequencing PipelineGeneticsNext-generation SequencingDmd PedigreesMolecular BiologyDisease Gene IdentificationGenomicsLarge Inversion MutationsMedicineBioinformaticsGenome EditingVariant Interpretation