Publications by authors named "Alberto Maillo"

In today's scientific landscape, research software has evolved from being a supportive tool to becoming a fundamental driver of discovery, particularly in life sciences. Beyond its roots in software engineering, research software now plays a crucial role in facilitating efficient data analysis and enabling the exploration of complex natural phenomena. The advancements in simulations and modeling through research software have significantly accelerated the pace of scientific research while reducing associated costs.

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Article Synopsis
  • - Large genomic studies have enhanced our understanding of genetic diversity, emphasizing the need for regional genetic profiling to differentiate benign variants from those linked to diseases.
  • - A comprehensive analysis of the Navarre population in Spain identified 61,410 biallelic single nucleotide variants (SNVs), with 35% found to be common variants.
  • - By comparing allele frequencies across different datasets, the study identified 1,069 SNVs that are common in Navarre but rare in other populations, confirming the importance of tailoring genetic analysis to specific populations to better detect harmful variants.
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Recent progress in Single-Cell Genomics has produced different library protocols and techniques for molecular profiling. We formulate a unifying, data-driven, integrative, and predictive methodology for different libraries, samples, and paired-unpaired data modalities. Our design of scAEGAN includes an autoencoder (AE) network integrated with adversarial learning by a cycleGAN (cGAN) network.

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Circulating tumor cells are the key link between a primary tumor and distant metastases, but once in the bloodstream, loss of adhesion induces cell death. To identify the mechanisms relevant for melanoma circulating tumor cell survival, we performed RNA sequencing and discovered that detached melanoma cells and isolated melanoma circulating tumor cells rewire lipid metabolism by upregulating fatty acid (FA) transport and FA beta-oxidation‒related genes. In patients with melanoma, high expression of FA transporters and FA beta-oxidation enzymes significantly correlates with reduced progression-free and overall survival.

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Peripheral arterial disease (PAD) is associated with a high risk of cardiovascular events and death and is postulated to be a critical socioeconomic cost in the future. Extracellular vesicles (EVs) have emerged as potential candidates for new biomarker discovery related to their protein and nucleic acid cargo. In search of new prognostic and therapeutic targets in PAD, we determined the prothrombotic activity, the cellular origin and the transcriptomic profile of circulating EVs.

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