Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding Elements of the Genome
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DOI: 10.3390/ijms22042060
Abstract: The advent of long-read sequencing offers a new assessment method of detecting genomic structural variation (SV) in numerous rare genetic diseases. For autism spectrum disorders (ASD) cases where pathogenic variants fail to be found in… read more here.
Keywords: long read; read sequencing; elements genome; impacting complex ... See more keywords