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Ultime pubblicazioni e brevetti sulla bioinformatica

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Bioinformatica
La bioinformatica combina tecniche computazionali e statistiche per analizzare dati biologici complessi e ottenere informazioni sulle funzioni molecolari e sui meccanismi delle malattie.

La bioinformatica integra metodi computazionali e tecniche statistiche per analizzare e interpretare dati biologici, in particolare set di dati genomici, trascrittomici, proteomici e metabolomici su larga scala. Questo dominio affronta l'allineamento delle sequenze, l'assemblaggio del genoma, il profilo di espressione genica, la previsione della struttura proteica e le reti di interazione molecolare, facilitando la comprensione della funzione molecolare, delle relazioni evolutive e dei meccanismi delle malattie. I progressi nello sviluppo di algoritmi, nelle applicazioni di apprendimento automatico e nell'elaborazione dei dati ad alto rendimento consentono un'annotazione completa, l'interpretazione delle varianti e la modellazione a livello di sistema. La seguente raccolta raccoglie le più recenti pubblicazioni scientifiche e innovazioni brevettate incentrate su strumenti computazionali, gestione di database, pipeline analitiche e approcci integrativi essenziali per il progresso della ricerca biologica e della medicina di precisione.

Questa è la nostra ultima selezione di pubblicazioni e brevetti in inglese sulla Bioinformatica, tra molte riviste scientifiche online, classificate e focalizzate su sequenziamento di genomi, allineamento di sequenze, predizione di strutture proteiche, filogenetica, espressione genica, sequenziamento di nuova generazione, bioinformatica, genomica computazionale, trascrittomica, metagenomica, analisi dei dati proteomici, docking molecolare, database biologico, bioinformatica strutturale, annotazione del genoma, chiamata di varianti, epigenomica, biologia dei sistemi, genomica comparativa, genomica funzionale, analisi RNA-Seq, biostatistica, biologia computazionale, scoperta di biomarcatori, analisi dei percorsi e metabolomica.

Products and methods for full-length smchd1 expression using split inteins

Patent published on the 2026-05-21 in WO under Ref WO2026107323 by RESEARCH INST AT NATIONWIDE CHILDRENS HOSPITAL [US] (Harper Scott Q [us], Thangaraj Merlin Premalatha [us])

Abstract: Nucleic acids, vectors, compositions, systems, and methods for expressing a structural maintenance of chromosomes hinge domain containing 1 (SMCHD1) polypeptide to epigenetically silence double homeobox 4 (DUX4) for the treatment of a disease or disorder associated with DUX4 are provided. DUX4 regulates gene expression and plays a role in development, muscular dystrophy (including, but not limited to, facioscapulohumeral dystrophy (FSHD)), a cancer, or Bosma arhinia microphthalmia syndrome (BAMS[...]


Our summary: This content discusses products and methods for expressing the SMCHD1 polypeptide using split inteins. It highlights the role of DUX4 in diseases like muscular dystrophy and cancer. The approach aims to downregulate DUX4 expression for therapeutic purposes.

SMCHD1, split inteins, gene expression, DUX4

Patent

Gene expression elements and systems and use thereof

Patent published on the 2026-05-14 in AU under Ref AU2026202953 by GENENEER LTD (Shefer Kinneret)

Abstract: Abstract The present invention relates to an expression control element and expression system comprising same, particularly to an expression control element regulated by a polyamine or polyamine analogue, host cells and eukaryotic organisms comprising same and methods of use thereof. Abstract same and methods of use thereof. pr p r s a m e a n d m e t h o d s o f u s e t h e r e o f[...]


Our summary: The invention involves an expression control element regulated by polyamines. It includes an expression system and host cells utilizing this element. Methods for using these systems in eukaryotic organisms are also described.

gene expression, expression control element, polyamine regulation, eukaryotic systems

Patent

Photomics analysis of samples

Patent published on the 2026-05-14 in AU under Ref AU2024378765 by ALTOS LABS INC (Angeles Albores David, Arbelo-gonzalez Wilmer, Pedoia Valentina, Riehs Nina)

Abstract: The present invention sets for a technique for determining a transcriptomic profile of a sample comprising one or more cells. The disclosed techniques include obtaining one or more single cell images of the sample. The techniques also include predicting a transcriptomic profile for one or more cells of the sample using a machine learning model configured to take as input one or more single cell images and produce as output a predicted transcriptomic profile for the one or more cells in the singl[...]


Our summary: The invention describes a method for determining the transcriptomic profile of a sample using single cell images. It employs a machine learning model to predict transcriptomic profiles based on these images. The approach yields both measured and predicted expression levels for various transcripts.

Transcriptomics, Photomics, Machine Learning, Single Cell

Patent

Automated multi-omics assay development system for high-throughput proteomic and metabolomic quantification

Patent published on the 2026-05-07 in US under Ref US20260128132 by COMPLETE OMICS INT INC [US] (Wang Qing [us], Chaerkady Raghothama [us], Kashyap Anirudh [us], Fair Morgan [us], Zhao Liang [us])

Abstract: Disclosed are systems and methods for automated chromatographic peak detection and refinement in high-throughput LC-MS/MS datasets, applicable to both proteomics and metabolomics. The invention integrates signal smoothing, apex detection, boundary assignment, and machine learning-based quality scoring into a fully automated pipeline. The system supports multiple acquisition modes (e.g., DIA-PASEF, Orbitrap), chromatographic strategies (C18, C30, HILIC), and biological matrices. Detected peaks ar[...]


Our summary: The system automates multi-omics assay development for proteomic and metabolomic quantification. It integrates peak detection, refinement, and quality scoring using machine learning. The invention enhances reproducibility and reduces manual curation time in high-throughput datasets.

multi-omics, high-throughput, LC-MS/MS, machine learning

Patent

Plants having improved traits

Patent published on the 2026-05-06 in GB under Ref GB2701582 by WILD BIOSCIENCE LTD [GB] (Ross Hendron [gb], Rona Costello [gb], Steven Kelly [gb])

Abstract: A method for generating a plant having improved growth and/or yield. The method comprises increasing the size of one or more guard cells in a plant compared to a guard cell size in an independent wildtype control plant of the same species under the same environmental conditions, wherein the ratio of guard cell size to leaf epidermal cell size in the plant is increased as compared to the ratio in the control plant. The guard cell can have increased cell volume, increased nuclear cell content, inc[...]


Our summary: The method generates plants with improved growth and yield by increasing guard cell size. This involves modifying the expression of factors that promote endoreduplication in guard cells. A gene construct is also described, which includes a regulatory element for guard cell-specific expression.

Guard cells, Endoreduplication, Gene expression, Plant traits

Patent

Gas pipeline pathway analysis, control and communication

Patent published on the 2026-04-23 in US under Ref US20260110405 by FLORIDA POWER & LIGHT COMPANY [US] (Sudhakar Rahul [us], Kaufman Richard E [us], Gorman Lisa F [us], Macon Max R [us], Acosta Manuel P [us])

Abstract: [0000] Some embodiments provide systems and methods for gas pipeline pathway analysis, control and communication. In some embodiments, a physical pipeline scheduling and control system comprises a server or computer-based computing system configured to receive a user input corresponding to a request for a gaseous resource, automatically obtain data from a plurality of data sources, automatically simulate a plurality of potential pathways of the gas pipeline network, automatically output a pathwa[...]


Our summary: The system automates gas pipeline pathway analysis and control. It receives user requests and simulates potential pathways. The selected pathway is formatted and submitted electronically for execution.

pipeline analysis, control systems, gas pathways, data simulation

Patent

ReaxFF molecular dynamics investigation of co-combustion between Zhundong coal and lignin

Published on 2026-02-25 by @OXFORD

Abstract: AbstractCo-combustion of coal and biomass offers a promising solution to reduce fossil fuel dependency. This study employs reactive force-field molecular dynamics (ReaxFF MD) to investigate the microscopic effects of temperature and mixing ratio on Zhundong coal–lignin co-combustion. Elevated temperatures significantly enhance the conversion from large molecules to smaller gaseous products (CO2, H2O), suppressing tar formation. Higher coal ratios (3:1, 2:1) favor reduced tar yield and increase[...]


Our summary: This study uses ReaxFF molecular dynamics to analyze the co-combustion of Zhundong coal and lignin. Elevated temperatures and higher coal ratios improve gaseous product yields while reducing tar formation. Reaction pathways indicate distinct contributions from coal oxidation, lignin pyrolysis, and the behavior of nitrogen and sulfur during combustion.

ReaxFF, molecular dynamics, co-combustion, Zhundong coal

Publication

A Comparative Study of CNN, BiLSTM, and GRU Architectures

Published on 2026-02-03 by Elias Tabane, Ernest Mnkandla, Zenghui Wang @MDPI

Abstract: DNA sequence classification is a fundamental problem in bioinformatics, playing an indispensable role in gene annotation and disease prediction. Whereas most deep learning models, such as CNNs, BiLSTM networks, and GRUs, have been found individually optimal, each of these methods excels in modeling a specific aspect of sequence data: local motifs, long-range dependencies, and efficient temporal modeling of the sequences. Here, we present and evaluate an ensemble model that integrates CNN, BiLSTM[...]


Our summary: This study evaluates CNN, BiLSTM, and GRU architectures for DNA sequence classification. An ensemble model combining these methods achieved a classification accuracy of 90.6%, outperforming individual models. The research highlights the effectiveness of hybrid deep learning in genomic data analysis.

CNN, BiLSTM, GRU, ensemble

Publication

Argomenti trattati: Bioinformatica, tecniche computazionali, tecniche statistiche, dati biologici, insiemi di dati genomici, insiemi di dati trascrittomici, insiemi di dati proteomici, insiemi di dati metabolomici, allineamento di sequenze, assemblaggio di genomi, profilazione dell'espressione genica, previsione di strutture proteiche, reti di interazione molecolare, apprendimento automatico, elaborazione di dati high-throughput, interpretazione di varianti, modellazione a livello di sistema, medicina di precisione, ISO/IEC 27001, ISO 9001, ISO/IEC 25010, ISO 31000 e ISO 13485.

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