Publication: Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding Elements of the Genome
dc.contributor.author | Begum, Ghausia | |
dc.contributor.author | Albanna, Ammar | |
dc.contributor.author | Bankapur, Asma | |
dc.contributor.author | Berdiev, Bakhrom | |
dc.contributor.author | Karuvantevida, Noushad | |
dc.contributor.author | Alhashmi, Deena | |
dc.contributor.author | Alsheikh-Ali, Alawi | |
dc.contributor.author | Uddin, Mohammed | |
dc.contributor.author | Nassir, Nasna | |
dc.contributor.author | Tambi, Richa | |
dc.date.accessioned | 2022-03-17T07:48:02Z | |
dc.date.available | 2022-03-17T07:48:02Z | |
dc.date.issued | 2021 | |
dc.description.abstract | 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 the protein-coding genic regions along chromosomes, we proposed a scalable workflow to characterize the risk factor of SVs impacting non-coding elements of the genome. We applied whole-genome sequencing on an Emirati family having three children with ASD using long and short-read sequencing technology. A series of analytical pipelines were established to identify a set of SVs with high sensitivity and specificity. At 15-fold coverage, we observed that long-read sequencing technology (987 variants) detected a significantly higher number of SVs when compared to variants detected using short-read technology (509 variants) (p-value < 1.1020 _ 1057). Further comparison showed 97.9% of long-read sequencing variants were spanning within the 1–100 kb size range (p-value < 9.080 _ 1067) and impacting over 5000 genes. Moreover, long-read variants detected 604 non-coding RNAs (p-value < 9.02 _ 109), comprising 58% microRNA, 31.9% lncRNA, and 9.1% snoRNA. Even at low coverage, long-read sequencing has shown to be a reliable technology in detecting SVs impacting complex elements of the genome. | en_US |
dc.identifier.other | 204-2021.132 | |
dc.identifier.uri | https://repository.mbru.ac.ae/handle/1/931 | |
dc.language.iso | en | en_US |
dc.subject | Long-read sequencing | en_US |
dc.subject | Non-coding RNA | en_US |
dc.subject | Structural variation | en_US |
dc.subject | Whole-genome sequencing (WGS) | en_US |
dc.subject | Oxford Nanopore Technology (ONT) | en_US |
dc.title | Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding Elements of the Genome | en_US |
dc.type | Article | en_US |
dspace.entity.type | Publication | en_US |