Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding Elements of the Genome

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...

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Detalhes bibliográficos
Publicado no:Int J Mol Sci
Main Authors: Begum, Ghausia, Albanna, Ammar, Bankapur, Asma, Nassir, Nasna, Tambi, Richa, Berdiev, Bakhrom K., Akter, Hosneara, Karuvantevida, Noushad, Kellam, Barbara, Alhashmi, Deena, Sung, Wilson W. L., Thiruvahindrapuram, Bhooma, Alsheikh-Ali, Alawi, Scherer, Stephen W., Uddin, Mohammed
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2021
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7923155/
https://ncbi.nlm.nih.gov/pubmed/33669700
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22042060
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