Percorrer por autor "Pinto, Vera"
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- Are genetic modifiers the answer to different responses to hydroxyurea treatment? A pharmacogenetic study in sickle cell anemia Angolan childrenPublication . Ginete, Catarina; Delgadinho, Mariana; Santos, Brígida; Pinto, Vera; Silva, Carina; Miranda, Armandina; Brito, MiguelSickle cell anemia (SCA) is an inherited disease affecting the hemoglobin that is particularly common in sub-Saharan Africa. Although monogenic, phenotypes are markedly heterogeneous in terms of severity and life span. Hydroxyurea is still the most common treatment for these patients, and the response to treatment is highly variable and seems to be an inherited trait. Therefore, identifying the variants that might predict hydroxyurea response is important for identifying patients who will have a poorer or non-response to treatment, and the ones that are more prone to suffer from severe side effects. In the present pharmacogenetic study, we analyzed the exons of 77 genes described in the literature as potentially associated with hydroxyurea metabolism in Angolan children treated with hydroxyurea and evaluated the drug response considering fetal hemoglobin levels, other hematological and biochemical parameters, hemolysis, number of vaso-occlusive crises and hospitalizations. Thirty variants were identified in 18 of those genes as possibly associated with drug response, five of them in gene DCHS2. Other polymorphisms in this gene were also associated with hematological, biochemical, and clinical parameters. Further research examining the maximum tolerated dose and fixed-dose with a larger sample size is necessary to corroborate these findings.
- Assessing the comparability and the understandability of the information on cash flows by European-listed entitiesPublication . Velez, Ana Rita; Albuquerque, Fábio; Pinto, VeraThis chapter aims to assess the comparability and understandability of information on cash flows through the choices by entities in the presentation of the statement of cash flows (SCF) and the disclosure of non-generally accepted accounting principles measures (NGM) related to cash flow information, respectively. Data were obtained from 484 consolidated annual reports, between 2018 and 2021, from 121 entities listed on Euronext. The findings indicated that interest paid and received (dividends paid) were generally classified in the operating (financing) category, contrary to (aligned with) the proposed in the exposure draft (ED) issued by the International Accounting Standards Board (IASB). The findings also showed that entities often disclose NGM related to cash flows and present their formula and the possibility of reconciliation with the SCF. This research contributes to the discussion around the comparability, and understandability of information in the context of the current IASB's ED, which aims to standardise the presentation and the disclosure requirements on cash flows.
- Variant calling in genomics: a comparative performance analysis and decision guidePublication . Pinto, Vera; Sousa, Lisete; Silva, Carina; Nejat MahdiehThe accurate detection of genetic variants is critical for advancing genomics research and precision medicine. However, this task remains challenging due to pervasive sequencing errors and complex genomic regions. The choice of variant calling software significantly influences results, creating a need for clear, evidence-based guidance. This study aims to provide a performance evaluation and a clear, evidence-based guide for selecting variant callers by benchmarking seven widely used tools, GATK, FreeBayes, DeepVariant, Samtools, Strelka2, Octopus, and Varscan2, highlighting their algorithmic trade-offs. The well-characterized NA12878 genome from the Genome in a Bottle consortium was analyzed. High-coverage whole-genome sequencing data were processed with each variant caller, and the resulting variant calling files were benchmarked against a gold-standard reference. Performance was assessed using precision, recall, and F1-score on a chromosome 20 subset and on full whole-genome data. The analysis revealed that DeepVariant's deep learning approach achieved the highest precision (0.7869) and F1-score (0.8754) on chromosome 20. For whole-genome analysis, Strelka2 excelled in precision (0.8326), while Octopus demonstrated superior recall (0.9838). FreeBayes exhibited high sensitivity but lower precision, underscoring a key trade-off. There is no universally superior variant caller; the optimal choice depends on the specific research objectives, whether prioritizing precision, recall, or computational efficiency. This study serves as a crucial evidence-based resource for researchers and clinicians, enabling informed tool selection.
- What is more relevant? A comparison of cash flows indicators versus profit or loss from listed European companiesPublication . Velez, Ana Rita; Pinto, Vera; Albuquerque, Fábio; Ntim, Collins G.There is still controversy regarding the relevance of cash flow versus accruals. Relevant information can be assessed in multiple ways, including its value relevance and predictability. This paper then compares the value relevance and pre dictive value of accruals and cash flow measures to determine entities’ stock value and future cash flows, respectively. The data was obtained from 484 consolidated annual reports of 121 companies listed on Euronext between 2018 and 2021. Data assessment used a linear regression model. The findings suggest that cash flow measures have a more significant influence on stock prices than profit or loss (about 40% versus 20%, based on the models’ explanatory power). Furthermore, historical cash flows are proven to be a better predictor of future cash flows than profit or loss (90% versus 80%). Furthermore, neither accrual nor cash flow measures forecast future profit or loss significantly (below 35% in all cases). Findings also indicate a reduced capability of accrual or cash flow measures to forecast future profit or loss. This paper contributes to the ongoing debate on the relevance of cash flow versus accrual measures, which still presents differing conclusions. As part of its innovation, it compares profit or loss with multiple cash flow measures, such as non-GAAP measures and the concept introduced by the IASB in its exposure draft for operating cash flow. Additionally, the study examines the potential impacts and benefits of changes proposed in the IASB’s expo sure draft, including how they can affect stock prices and forecast future cash flows.