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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 |
Jiménez-Martínez, Víctor |
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dc.date.accessioned |
2023-03-09T10:25:25Z |
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dc.date.available |
2023-03-09T10:25:25Z |
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dc.date.created |
2022-09 |
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dc.date.issued |
2022-08 |
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dc.identifier.uri |
http://hdl.handle.net/10854/7322 |
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dc.description |
Curs 2021-2022 |
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dc.description.abstract |
Cutaneous Malignant Melanoma (CMM) is a rapidly increasing malignancy for which immune check-point inhibition has proved efficient in inducing an anti-cancer immune response. However, not all pa-tients are able to benefit from these therapies and finding biomarkers able to appropriately predict response stands as a big challenge to overcome. Elucidating the molecular and immune landscape through omics technologies may unveil new potential predictors. For this purpose, computational anal-ysis of Whole-exome sequencing (WES) and RNA-sequencing (RNAseq) data was performed in a 24-patient melanoma cohort with responders and non-responders. Mutational landscape pointed to a po-tential implication of NRAS mutations in response while dismissing Tumor Mutation Burden (TMB) role. MCPCounter deconvolution of immune cell populations showed no differences in quantities of infiltra-tion in pre-treatment samples, while suggested infiltration after treatment. However, differential expres-sion analysis through DESeq2 implied a more enabling immunogenic landscape in pre-treatment re-sponders. In that sense, integration of expression and Copy Number Alteration (CNA) data through DIABLO allowed discrimination of responders and non-responders in pre-treatment samples through cytokine-related genes. Finally, 10-fold cross validation and selection modeling of differentially ex-pressed genes with generalized linear models evoked two new potential biomarkers: CD58 and PMEL. |
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dc.format |
application/pdf |
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dc.format.extent |
49 p. |
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dc.language.iso |
eng |
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dc.relation.ispartof |
Cancer bioinformatics |
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dc.rights |
Tots els drets reservats |
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dc.subject.other |
Melanoma |
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dc.subject.other |
Immunoteràpia |
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dc.subject.other |
Biomarcadors |
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dc.title |
Omic characterization of melanoma for the identification of potential biomarkers in response to immune checkpoint inhibitors |
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dc.type |
info:eu-repo/semantics/masterThesis |
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dc.description.version |
Directora: Mireia Olivella |
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dc.description.version |
Supervisors: Evgeniya Denisova i Benedikt Brors |
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dc.rights.accessRights |
info:eu-repo/semantics/closedAccess |
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