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Hermenean, A.

Publications and source records attributed to Hermenean, A..

3 recordsLinked to original sources

PopGenPlayground: a population genomics analysis pipeline

BackgroundPopulation genomic projects are essential in the current drive to map the genome diversity of human populations across the globe. Various barriers persist hindering these efforts, and the lack of bioinformatic expertise and reproducible standardized population-scale analysis is one of the major challenges limiting their discovery potential. Scalable, automated, user-friendly pipelines can help researchers with minimum programming skills to tackle these issues without extensive training. ResultsPopGenPlayground (PGP), is a streamlined, single-command computation pipeline designed for human population genomics analysis based on Snakemake workflow management system. Developed to automate secondary analysis of a previously published national genome project, it leverages the publicly available genomic databases for comparative analysis and annotation of variant calls. ConclusionsPGP presents a multi-platform robust population analysis pipeline, that reduces the time and the expertise levels to perform the main core of population analysis for a national genome project. PGP provides a comprehensive secondary analysis tool and can be used to perform analysis on a personal computer or using a remote high-performance computing platform.

bioinformatics↗

ROUA Database: 300 Human Genomes from the border of Ukraine and Romania

We present a multi-layered data source (ROUA Database) providing the results of Whole Genome Sequencing of two human populations in the Carpathian Mountains region, specifically Ukraines Transcarpathia and Romanias Satu Mare and Baia Mare provinces, areas previously underexplored in population genomics. The database contains the raw and annotated files of the whole genome sequences from 300 individuals from these regions, including annotations of common and unique genetic variants following a sampling protocol designed to capture the genetic diversity of Ukrainians and Romanians, including minority groups like Wallachians and Roma. The data is hosted on a dedicated web resource. We provide information on how to access to results of primary and secondary analysis of the data, including comparative analysis with previously published populations from Ukraine, and populations from International Genome Sample Resource and Human Genome Diversity Project. The free research access to this database is contributing to growing understanding of human genetic diversity in Central Europe. This effort emphasizes the potential for reuse of the generated data, advocating for open access to support future research in genomics, bioinformatics, and personalized medicine.

genomics↗

Chrysin directing an enhanced solubility through the formation of a supramolecular cyclodextrin-calixarene drug delivery system: a potential strategy in antifibrotic diabetes therapeutics

Calixarene 0118 (OTX008) and chrysin (CHR) are promising molecules for the treatment of fibrosis and diabetes complications but require an effective delivery system to overcome their low solubility and bioavailability. Sulfobutylated {beta}-cyclodextrin (SBECD) was evaluated for its ability to increase the solubility of CHR by forming a ternary complex with OTX008. The resulting increase in solubility and the mechanisms of complex formation were identified through phase-solubility studies, while dynamic light-scattering assessed the molecular associations within the CHR-OTX008-SBECD system. Nuclear magnetic resonance, differential scanning calorimetry, and computational studies elucidated the interactions at the molecular level, and cellular assays confirmed the systems biocompatibility. Combining SBECD with OTX008 enhances CHR solubility more than using SBECD alone, by forming water-soluble molecular associates in a ternary complex. This aids in the solubilization and delivery of CHR and OTX008. Structural investigations revealed non-covalent interactions essential to complex formation, which showed no cytotoxicity in hyperglycemic in vitro conditions. A new ternary complex has been formulated to deliver promising antifibrotic agents for diabetic complications, featuring OTX008 as a key structural and pharmacological component.

pharmacology and toxicology↗