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Mas, J. M.

Publications and source records attributed to Mas, J. M..

3 recordsLinked to original sources

Network-guided identification of candidate biomarkers for COPD-associated comorbidities using deep learning and real-world transcriptomic data

Chronic obstructive pulmonary disease (COPD) frequently coexists with infections, metabolic disease, cardiovascular disease, inflammatory lung injury and lung cancer. Molecular markers derived by comparing a comorbidity with healthy controls need not identify the transition from an established COPD state to that comorbidity. We therefore developed a two-stage computational strategy that asks a narrower question: which proteins can distinguish COPD samples from samples annotated with a specific COPD-associated comorbidity? First, a Human Protein Network (HPN; 17,302 proteins and 492,195 relationships) was encoded by 20 graph-derived features. A convolutional-neural-network ensemble, termed the functional-distance model (FDM), was trained on known drug-target-indication relationships. Stored training-set predictions yielded an apparent balanced accuracy of 0.811 and Matthews correlation coefficient (MCC) of 0.627; these values describe resubstitution performance and are not an independent estimate of generalization. The COPD-centred network search evaluated 2,645 nearby proteins and retained 224 candidates using a COPD FDM score above 0.50. Candidate expression was then tested in independently assembled public patient-derived transcriptomic data using simple one-feature classifiers and cross-validation. The resulting exploratory panel contained GTF2I for bacterial infection, UBXN7 for type 2 diabetes, LIFR for hypertension, SRGN for lung neoplasm and FGF4 for pneumonitis. Across the saved cross-validation predictions, balanced accuracy ranged from 0.838 to 0.970 and MCC from 0.726 to 0.941. SRGN has direct experimental support in non-small-cell lung cancer, whereas the remaining candidates have varying indirect mechanistic support and should be regarded as hypotheses rather than established disease biomarkers. This work demonstrates an orthogonal discovery framework in which network-based functional prioritization and patient-derived molecular discrimination constrain one another. Its main contribution is methodological: it provides a reusable strategy for generating comorbidity-specific biomarker hypotheses from an index-disease state. Prospective longitudinal cohorts are required before claims of progression prediction or clinical utility can be made.

systems biology↗

The usage of transcriptomics datasets as sources of Real-World Data for clinical trialling

BackgroundRandomised Clinical Trials (RCT) reflect results within their specific controlled settings, necessitating further studies to understand outcomes across all possible scenarios. The usage of Real-World Data (RWD) has been recently considered to be a viable alternative to overcome these issues and complement clinical conclusions. Molecular profiles of patients captured by high-throughput measures reflect their medical conditions. When this information is linked to clinical and demographical information, nuances in transcriptomics data can uncover subtle variations in disease pathways among distinct patient groups. This work focuses on the construction of a patient repository database with molecular and clinical information resulting from the integration of publicly available transcriptomics datasets. ResultsPatient data were integrated into the patient repository by using a novel post-processing technique allowing for the usage of samples originating from different/multiple Gene Expression Omnibus (GEO) datasets. Our post-processing technique, which we have named MicroArray Cross-plAtfoRm pOst-prOcessiNg (MACAROON), aims to standardise and integrate transcriptomics data (considering batch effects and possible processing-originated artefacts). This process was able to better reproduce the down streaming biological conclusions in a 45% improvement compared to other methods available. Furthermore, RWD was mined from GEO samples metadata and a clinical and demographical characterisation of the database was obtained. RWD mining was done through a manually curated synonym dictionary allowing for the correct assignment (95.33% median accuracy; 80.14% average) of medical conditions. ConclusionsOur strategy produced a repository, which includes molecular, clinical and demographical RWD by integrating multiple public datasets. The exploration of these data facilitates the discovery of clinical outcomes and molecular pathways specific to predetermined patient populations.

bioinformatics↗

CuBlock: A cross-platform normalization method for gene-expression microarrays

MotivationCross-(multi)platform normalization of gene-expression microarray data remains an unresolved issue. Despite the existence of several algorithms, they are either constrained by the need to normalize all samples of all platforms together, compromising scalability and reuse, by adherence to the platforms of a specific provider, or simply by poor performance. In addition, many of the methods presented in the literature have not been specifically tested against multi-platform data and/or other methods applicable in this context. Thus, we set out to develop a normalization algorithm appropriate for gene-expression studies based on multiple, potentially large microarray sets collected along multiple platforms and at different times, applicable in systematic studies aimed at extracting knowledge from the wealth of microarray data available in public repositories; for example, for the extraction of Real-World Data to complement data from Randomized Controlled Trials. Our main focus or criterion for performance was on the capacity of the algorithm to properly separate samples from different biological groups. ResultsWe present CuBlock, an algorithm addressing this objective, together with a strategy to validate cross-platform normalization methods. To validate the algorithm and benchmark it against existing methods, we used two distinct data sets, one specifically generated for testing and standardization purposes and one from an actual experimental study. Using these data sets, we benchmarked CuBlock against ComBat (Johnson et al., 2007), YuGene (Le Cao et al., 2014), DBNorm (Meng et al., 2017), Shambhala (Borisov et al., 2019) and a simple log2 transform as reference. We note that many other popular normalization methods are not applicable in this context. CuBlock was the only algorithm in this group that could always and clearly differentiate the underlying biological groups after mixing the data, from up to six different platforms in this study. AvailabilityCuBlock can be downloaded from https://www.mathworks.com/matlabcentral/fileexchange/77882-cublock Contactxouse@anaxomics.com, xavier.daura@uab.cat Supplementary informationSupplementary data are available at bioRxiv online.

bioinformatics↗