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dc.contributor |
Universitat de Vic - Universitat Central de Catalunya. Màster Universitari en Anàlisi de Dades Òmiques |
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dc.contributor |
Universitat de Vic - Universitat Central de Catalunya. Facultat de Ciències i Tecnologia |
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dc.contributor.author |
Carbonell-Sala, Sílvia |
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dc.date.accessioned |
2024-02-02T09:21:31Z |
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dc.date.available |
2024-02-02T09:21:31Z |
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dc.date.created |
2023-09-01 |
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dc.date.issued |
2023-09-01 |
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dc.identifier.uri |
http://hdl.handle.net/10854/7735 |
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dc.description |
Curs 2022-2023 |
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dc.description.abstract |
Motivation: Alternative splicing, a crucial post-transcriptional process, enhances proteomic diversity
without increasing gene numbers, playing pivotal roles in gene regulation, specialization, and disease.
Short-read sequencing limitations have prompted exploration of long-read sequencing, such as Oxford
Nanopore Technologies.
Results: This study investigates alternative splicing in the human lymphoblastic leukemia B (BLaER1) cell
line’s nucleus and cytosol using second and third-generation sequencing. Long-read Oxford Nanopore
data, analyzed with FLAIR, elucidates RNA localization and splicing regulation. Short-read Illumina RNASeq
complements this analysis for precise junction validation, employing SQANTI-based filtering for data
quality. Adapting ggsashimi for long-read visualization enhances isoform and splicing event assessment.
Specific genes (ZDHHC6, MTG1, LAP3) reveal compartmental variations, emphasizing gene regulation’s
compartmental importance. Enriched Gene Ontology terms indicate cytosol-nucleus differences in RNA
processing, translation, and ribosome biogenesis. These findings provide a comprehensive understanding
of alternative splicing, RNA processing, and gene regulation, with implications for splicing-related disease
therapeutics. |
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dc.format |
application/pdf |
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dc.format.extent |
10 p. |
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dc.language.iso |
eng |
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dc.rights |
Tots els drets reservats |
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dc.subject.other |
Transcriptomes |
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dc.subject.other |
Expressió gènica |
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dc.title |
Cell compartment isoform expression analysis using long-read transcriptomics |
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dc.type |
info:eu-repo/semantics/masterThesis |
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dc.description.version |
Academic tutor: Josep M. Serrat |
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dc.rights.accessRights |
info:eu-repo/semantics/closedAccess |
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