Consorci Institut D'Investigacions Biomediques August Pi I Sunyer • Barcelona, Spain
After my biochemistry degree, I shared my passion for computers, informatics and basic research. Therefore, I decided to enrol in the CIBERehd bioinformatics platform during my master degree, under Dr. J.J. Lozano supervision. I learned and improved…
After my biochemistry degree, I shared my passion for computers, informatics and basic research. Therefore, I decided to enrol in the CIBERehd bioinformatics platform during my master degree, under Dr. J.J. Lozano supervision. I learned and improved my software coding skills and performed germline copy number variant identification through exome sequencing data analysis from hereditary colorectal cancer patients. Lately, I was employed by Genetic predisposition to colorectal cancer research group, led by Dr. Castellvi-Bel, where I began my PhD studies aiming to identify new predisposition variants to colorectal cancer.
During this period, I generated an annotation and filtration pipeline to prioritize those potential germline predisposition variants to colorectal cancer (R based), either single nucleotide variants or copy number variants, improving the past manual filtration workflow used by the group. I contributed to generate a shiny implemented web-based application for mutational profile extraction: MuSiCa. Moreover, I performed gene expression array data analysis to assess gene dosage in colorectal cancer affected families carrying validated germline copy number variants.
Recently, I have been working in the development of a second shiny app, CNApp, to perform copy number alterations analysis. It is crucial to characterize copy number tumor genomic profiles due to their correlation with oncogenic treatment outcomes. For that, comprehensive analysis integrating copy number alterations with molecular and clinical features are mandatory. CNApp web tool easily allows for that by generating genome-wide profiles and by computing focal, broad and global alterations scores, establishing associations with clinical and biological annotations. More information about CNApp can be found at http://bioinfo.ciberehd.org/CNApp.
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