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

dc.contributor.authorBegum, Ghausia
dc.contributor.authorAlbanna, Ammar
dc.contributor.authorBankapur, Asma
dc.contributor.authorBerdiev, Bakhrom
dc.contributor.authorKaruvantevida, Noushad
dc.contributor.authorAlhashmi, Deena
dc.contributor.authorAlsheikh-Ali, Alawi
dc.contributor.authorUddin, Mohammed
dc.contributor.authorNassir, Nasna
dc.contributor.authorTambi, Richa
dc.date.accessioned2022-03-17T07:48:02Z
dc.date.available2022-03-17T07:48:02Z
dc.date.issued2021
dc.description.abstractAbstract: 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 _ 10􀀀57). Further comparison showed 97.9% of long-read sequencing variants were spanning within the 1–100 kb size range (p-value < 9.080 _ 10􀀀67) and impacting over 5000 genes. Moreover, long-read variants detected 604 non-coding RNAs (p-value < 9.02 _ 10􀀀9), 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.other204-2021.132
dc.identifier.urihttps://repository.mbru.ac.ae/handle/1/931
dc.language.isoenen_US
dc.subjectLong-read sequencingen_US
dc.subjectNon-coding RNAen_US
dc.subjectStructural variationen_US
dc.subjectWhole-genome sequencing (WGS)en_US
dc.subjectOxford Nanopore Technology (ONT)en_US
dc.titleLong-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding Elements of the Genomeen_US
dc.typeArticleen_US
dspace.entity.typePublicationen_US

Files