Publication | Open Access

The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing

BioinformaticsNext GenerationNext-generation SequencingGeneticsSequence Variant AnalysisGenetic EpidemiologyBiostatisticsDisease Gene IdentificationGenomicsPublic HealthMedicineSequencingVariant Interpretation