ORCID Profile
0000-0001-9655-7142
Current Organisation
University of Toronto
Does something not look right? The information on this page has been harvested from data sources that may not be up to date. We continue to work with information providers to improve coverage and quality. To report an issue, use the Feedback Form.
Publisher: Frontiers Media SA
Date: 25-03-2022
Publisher: Institute of Electrical and Electronics Engineers (IEEE)
Date: 2021
Publisher: Cold Spring Harbor Laboratory
Date: 21-10-2017
DOI: 10.1101/207092
Abstract: We present Bioconda ( bioconda.github.io ), a distribution of bioinformatics software for the lightweight, multiplatform and language-agnostic package manager Conda. Currently, Bioconda offers a collection of over 3000 software packages, which is continuously maintained, updated, and extended by a growing global community of more than 200 contributors. Bioconda improves analysis reproducibility by allowing users to define isolated environments with defined software versions, all of which are easily installed and managed without administrative privileges.
Publisher: Springer Science and Business Media LLC
Date: 04-03-2023
DOI: 10.1186/S13040-023-00325-1
Abstract: Neuroblastoma is a childhood neurological tumor which affects hundreds of thousands of children worldwide, and information about its prognosis can be pivotal for patients, their families, and clinicians. One of the main goals in the related bioinformatics analyses is to provide stable genetic signatures able to include genes whose expression levels can be effective to predict the prognosis of the patients. In this study, we collected the prognostic signatures for neuroblastoma published in the biomedical literature, and noticed that the most frequent genes present among them were three: AHCY , DPYLS3 , and NME1 . We therefore investigated the prognostic power of these three genes by performing a survival analysis and a binary classification on multiple gene expression datasets of different groups of patients diagnosed with neuroblastoma. Finally, we discussed the main studies in the literature associating these three genes with neuroblastoma. Our results, in each of these three steps of validation, confirm the prognostic capability of AHCY , DPYLS3 , and NME1 , and highlight their key role in neuroblastoma prognosis. Our results can have an impact on neuroblastoma genetics research: biologists and medical researchers can pay more attention to the regulation and expression of these three genes in patients having neuroblastoma, and therefore can develop better cures and treatments which can save patients’ lives.
Publisher: Springer Science and Business Media LLC
Date: 17-02-2023
DOI: 10.1186/S13040-023-00322-4
Abstract: Binary classification is a common task for which machine learning and computational statistics are used, and the area under the receiver operating characteristic curve (ROC AUC) has become the common standard metric to evaluate binary classifications in most scientific fields. The ROC curve has true positive rate (also called sensitivity or recall ) on the y axis and false positive rate on the x axis, and the ROC AUC can range from 0 (worst result) to 1 (perfect result). The ROC AUC, however, has several flaws and drawbacks. This score is generated including predictions that obtained insufficient sensitivity and specificity, and moreover it does not say anything about positive predictive value (also known as precision ) nor negative predictive value (NPV) obtained by the classifier, therefore potentially generating inflated overoptimistic results. Since it is common to include ROC AUC alone without precision and negative predictive value, a researcher might erroneously conclude that their classification was successful. Furthermore, a given point in the ROC space does not identify a single confusion matrix nor a group of matrices sharing the same MCC value. Indeed, a given (sensitivity, specificity) pair can cover a broad MCC range, which casts doubts on the reliability of ROC AUC as a performance measure. In contrast, the Matthews correlation coefficient (MCC) generates a high score in its $$[-1 +1]$$ [ - 1 ; + 1 ] interval only if the classifier scored a high value for all the four basic rates of the confusion matrix: sensitivity, specificity, precision, and negative predictive value. A high MCC (for ex le, MCC $$=$$ = 0.9), moreover, always corresponds to a high ROC AUC, and not vice versa. In this short study, we explain why the Matthews correlation coefficient should replace the ROC AUC as standard statistic in all the scientific studies involving a binary classification, in all scientific fields.
Publisher: Springer Science and Business Media LLC
Date: 23-02-2023
DOI: 10.1186/S13040-023-00326-0
Abstract: Bioinformatics has become a key aspect of the biomedical research programmes of many hospitals’ scientific centres, and the establishment of bioinformatics facilities within hospitals has become a common practice worldwide. Bioinformaticians working in these facilities provide computational biology support to medical doctors and principal investigators who are daily dealing with data of patients to analyze. These bioinformatics analysts, although pivotal, usually do not receive formal training for this job. We therefore propose these ten simple rules to guide these bioinformaticians in their work: ten pieces of advice on how to provide bioinformatics support to medical doctors in hospitals. We believe these simple rules can help bioinformatics facility analysts in producing better scientific results and work in a serene and fruitful environment.
Publisher: Springer Science and Business Media LLC
Date: 07-2018
Publisher: Springer Science and Business Media LLC
Date: 02-01-2020
DOI: 10.1186/S12864-019-6413-7
Abstract: To evaluate binary classifications and their confusion matrices, scientific researchers can employ several statistical rates, accordingly to the goal of the experiment they are investigating. Despite being a crucial issue in machine learning, no widespread consensus has been reached on a unified elective chosen measure yet. Accuracy and F 1 score computed on confusion matrices have been (and still are) among the most popular adopted metrics in binary classification tasks. However, these statistical measures can dangerously show overoptimistic inflated results, especially on imbalanced datasets. The Matthews correlation coefficient (MCC), instead, is a more reliable statistical rate which produces a high score only if the prediction obtained good results in all of the four confusion matrix categories (true positives, false negatives, true negatives, and false positives), proportionally both to the size of positive elements and the size of negative elements in the dataset. In this article, we show how MCC produces a more informative and truthful score in evaluating binary classifications than accuracy and F 1 score, by first explaining the mathematical properties, and then the asset of MCC in six synthetic use cases and in a real genomics scenario. We believe that the Matthews correlation coefficient should be preferred to accuracy and F 1 score in evaluating binary classification tasks by all scientific communities.
Publisher: Institute of Electrical and Electronics Engineers (IEEE)
Date: 2021
Publisher: Springer Science and Business Media LLC
Date: 03-11-2022
DOI: 10.1186/S13040-022-00312-Y
Abstract: Cancer is one of the leading causes of death worldwide and can be caused by environmental aspects (for ex le, exposure to asbestos), by human behavior (such as smoking), or by genetic factors. To understand which genes might be involved in patients’ survival, researchers have invented prognostic genetic signatures : lists of genes that can be used in scientific analyses to predict if a patient will survive or not. In this study, we joined together five different prognostic signatures, each of them related to a specific cancer type, to generate a unique pan-cancer prognostic signature, that contains 207 unique probesets related to 187 unique gene symbols, with one particular probeset present in two cancer type-specific signatures (203072_at related to the MYO1E gene). We applied our proposed pan-cancer signature with the Random Forests machine learning method to 57 microarray gene expression datasets of 12 different cancer types, and analyzed the results. We also compared the performance of our pan-cancer signature with the performances of two alternative prognostic signatures, and with the performances of each cancer type-specific signature on their corresponding cancer type-specific datasets. Our results confirmed the effectiveness of our prognostic pan-cancer signature. Moreover, we performed a pathway enrichment analysis, which indicated an association between the signature genes and a protein-protein interaction analysis, that highlighted PIK3R2 and FN1 as key genes having a fundamental relevance in our signature, suggesting an important role in pan-cancer prognosis for both of them.
Publisher: Institute of Electrical and Electronics Engineers (IEEE)
Date: 2021
Publisher: Springer Science and Business Media LLC
Date: 03-02-2020
DOI: 10.1186/S12911-020-1023-5
Abstract: Cardiovascular diseases kill approximately 17 million people globally every year, and they mainly exhibit as myocardial infarctions and heart failures. Heart failure (HF) occurs when the heart cannot pump enough blood to meet the needs of the body.Available electronic medical records of patients quantify symptoms, body features, and clinical laboratory test values, which can be used to perform biostatistics analysis aimed at highlighting patterns and correlations otherwise undetectable by medical doctors. Machine learning, in particular, can predict patients’ survival from their data and can in iduate the most important features among those included in their medical records. In this paper, we analyze a dataset of 299 patients with heart failure collected in 2015. We apply several machine learning classifiers to both predict the patients survival, and rank the features corresponding to the most important risk factors. We also perform an alternative feature ranking analysis by employing traditional biostatistics tests, and compare these results with those provided by the machine learning algorithms. Since both feature ranking approaches clearly identify serum creatinine and ejection fraction as the two most relevant features, we then build the machine learning survival prediction models on these two factors alone. Our results of these two-feature models show not only that serum creatinine and ejection fraction are sufficient to predict survival of heart failure patients from medical records, but also that using these two features alone can lead to more accurate predictions than using the original dataset features in its entirety. We also carry out an analysis including the follow-up month of each patient: even in this case, serum creatinine and ejection fraction are the most predictive clinical features of the dataset, and are sufficient to predict patients’ survival. This discovery has the potential to impact on clinical practice, becoming a new supporting tool for physicians when predicting if a heart failure patient will survive or not. Indeed, medical doctors aiming at understanding if a patient will survive after heart failure may focus mainly on serum creatinine and ejection fraction.
Publisher: Springer Science and Business Media LLC
Date: 13-10-2020
DOI: 10.1038/S41598-020-73558-3
Abstract: Sepsis is a life-threatening condition caused by an exaggerated reaction of the body to an infection, that leads to organ failure or even death. Since sepsis can kill a patient even in just one hour, survival prediction is an urgent priority among the medical community: even if laboratory tests and hospital analyses can provide insightful information about the patient, in fact, they might not come in time to allow medical doctors to recognize an immediate death risk and treat it properly. In this context, machine learning can be useful to predict survival of patients within minutes, especially when applied to few medical features easily retrievable. In this study, we show that it is possible to achieve this goal by applying computational intelligence algorithms to three features of patients with sepsis, recorded at hospital admission: sex, age, and septic episode number. We applied several data mining methods to a cohort of 110,204 admissions of patients, and obtained high prediction scores both on this complete dataset (top precision-recall area under the curve PR AUC = 0.966) and on its subset related to the recent Sepsis-3 definition (top PR AUC = 0.860). Additionally, we tested our models on an external validation cohort of 137 patients, and achieved good results in this case too (top PR AUC = 0.863), confirming the generalizability of our approach. Our results can have a huge impact on clinical settings, allowing physicians to forecast the survival of patients by sex, age, and septic episode number alone.
Publisher: PeerJ
Date: 05-07-2021
DOI: 10.7717/PEERJ-CS.623
Abstract: Regression analysis makes up a large part of supervised machine learning, and consists of the prediction of a continuous independent target from a set of other predictor variables. The difference between binary classification and regression is in the target range: in binary classification, the target can have only two values (usually encoded as 0 and 1), while in regression the target can have multiple values. Even if regression analysis has been employed in a huge number of machine learning studies, no consensus has been reached on a single, unified, standard metric to assess the results of the regression itself. Many studies employ the mean square error (MSE) and its rooted variant (RMSE), or the mean absolute error (MAE) and its percentage variant (MAPE). Although useful, these rates share a common drawback: since their values can range between zero and +infinity, a single value of them does not say much about the performance of the regression with respect to the distribution of the ground truth elements. In this study, we focus on two rates that actually generate a high score only if the majority of the elements of a ground truth group has been correctly predicted: the coefficient of determination (also known as R -squared or R 2 ) and the symmetric mean absolute percentage error (SMAPE). After showing their mathematical properties, we report a comparison between R 2 and SMAPE in several use cases and in two real medical scenarios. Our results demonstrate that the coefficient of determination ( R -squared) is more informative and truthful than SMAPE, and does not have the interpretability limitations of MSE, RMSE, MAE and MAPE. We therefore suggest the usage of R -squared as standard metric to evaluate regression analyses in any scientific domain.
Publisher: Elsevier BV
Date: 08-2023
Publisher: Cold Spring Harbor Laboratory
Date: 09-10-2017
DOI: 10.1101/200451
Abstract: The effectiveness of most cancer targeted therapies is short lived since tumors evolve and develop resistance. Combinations of drugs offer the potential to overcome resistance, however the number of possible combinations is vast necessitating data-driven approaches to find optimal treatments tailored to a patient’s tumor. AstraZeneca carried out 11,576 experiments on 910 drug combinations across 85 cancer cell lines, recapitulating in vivo response profiles. These data, the largest openly available screen, were hosted by DREAM alongside deep molecular characterization from the Sanger Institute for a Challenge to computationally predict synergistic drug pairs and associated biomarkers. 160 teams participated to provide the most comprehensive methodological development and subsequent benchmarking to date. Winning methods incorporated prior knowledge of putative drug target interactions. For % of drug combinations synergy was reproducibly predicted with an accuracy matching biological replicate experiments, however 20% of drug combinations were poorly predicted by all methods. Genomic rationale for synergy predictions were identified, including antagonism unique to combined PIK3CB/D inhibition with the ADAM17 inhibitor where synergy is seen with other PI3K pathway inhibitors. All data, methods and code are freely available as a resource to the community.
Publisher: Institute of Electrical and Electronics Engineers (IEEE)
Date: 2021
Publisher: Springer Science and Business Media LLC
Date: 04-02-2021
DOI: 10.1186/S13040-021-00244-Z
Abstract: Evaluating binary classifications is a pivotal task in statistics and machine learning, because it can influence decisions in multiple areas, including for ex le prognosis or therapies of patients in critical conditions. The scientific community has not agreed on a general-purpose statistical indicator for evaluating two-class confusion matrices (having true positives, true negatives, false positives, and false negatives) yet, even if advantages of the Matthews correlation coefficient (MCC) over accuracy and F 1 score have already been shown.In this manuscript, we reaffirm that MCC is a robust metric that summarizes the classifier performance in a single value, if positive and negative cases are of equal importance. We compare MCC to other metrics which value positive and negative cases equally: balanced accuracy (BA), bookmaker informedness (BM), and markedness (MK). We explain the mathematical relationships between MCC and these indicators, then show some use cases and a bioinformatics scenario where these metrics disagree and where MCC generates a more informative response.Additionally, we describe three exceptions where BM can be more appropriate: analyzing classifications where dataset prevalence is unrepresentative, comparing classifiers on different datasets, and assessing the random guessing level of a classifier. Except in these cases, we believe that MCC is the most informative among the single metrics discussed, and suggest it as standard measure for scientists of all fields. A Matthews correlation coefficient close to +1, in fact, means having high values for all the other confusion matrix metrics. The same cannot be said for balanced accuracy, markedness, bookmaker informedness, accuracy and F 1 score.
Publisher: Springer Science and Business Media LLC
Date: 17-06-2019
DOI: 10.1038/S41467-019-09799-2
Abstract: The effectiveness of most cancer targeted therapies is short-lived. Tumors often develop resistance that might be overcome with drug combinations. However, the number of possible combinations is vast, necessitating data-driven approaches to find optimal patient-specific treatments. Here we report AstraZeneca’s large drug combination dataset, consisting of 11,576 experiments from 910 combinations across 85 molecularly characterized cancer cell lines, and results of a DREAM Challenge to evaluate computational strategies for predicting synergistic drug pairs and biomarkers. 160 teams participated to provide a comprehensive methodological development and benchmarking. Winning methods incorporate prior knowledge of drug-target interactions. Synergy is predicted with an accuracy matching biological replicates for % of combinations. However, 20% of drug combinations are poorly predicted by all methods. Genomic rationale for synergy predictions are identified, including ADAM17 inhibitor antagonism when combined with PIK3CB/D inhibition contrasting to synergy when combined with other PI3K-pathway inhibitors in PIK3CA mutant cells.
No related grants have been discovered for Davide Chicco.