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Probability distribution of copy number alterations along the genome: an algori...
Esteves, Luísa; Caramelo, Francisco; Ribeiro, Ilda Patrícia; Carreira, Isabel M.; Melo, Joana Barbosa deCopy number alterations (CNAs) comprise deletions or amplifications of fragments of genomic material that are particularly common in cancer and play a major contribution in its development and progression. High resolution microarray-based genome-wide technologies have been widely used to detect CNAs, generating complex datasets that require further steps to allow for the determination of meaningful results. In ...
Head and neck cancer: searching for genomic and epigenetic biomarkers in body f...
Ribeiro, Ilda Patrícia; Melo, Joana Barbosa de; Carreira, Isabel MarquesHead and neck squamous cell carcinoma (HNSCC) affects multiple sites of the upper aerodigestive tract and exhibited high incidence and mortality worldwide, being frequently diagnosed at advanced stage. Early detection of HNSCC plays a crucial role in a successful therapy. In the last years, the survival rates of these tumors have not improved significantly due to the late diagnosis and the lack of precise disea...
Copy number variants prioritization after array-CGH analysis - a cohort of 1000...
Carreira, Isabel Marques; Ferreira, Susana Isabel; Matoso, Eunice; Pires, Luís Miguel; Ferrão, José; Jardim, Ana; Mascarenhas, Alexandra; Pinto, MartaBackground: Array-based comparative genomic hybridization has been assumed to be the first genetic test offered to detect genomic imbalances in patients with unexplained intellectual disability with or without dysmorphisms, multiple congenital anomalies, learning difficulties and autism spectrum disorders. Our study contributes to the genotype/phenotype correlation with the delineation of laboratory criteria wh...