Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding El...
Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding Elements of the Genome
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Switzerland: MDPI
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English
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Switzerland: MDPI
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Contents
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 the protein-coding genic regions along chromosomes, we proposed a scalable workflow to characterize the risk facto...
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Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding Elements of the Genome
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7923155
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7923155
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ISSN
1422-0067
E-ISSN
1422-0067
DOI
10.3390/ijms22042060