La bioinformática integra métodos computacionales y técnicas estadísticas para analizar e interpretar datos biológicos, en particular conjuntos de datos genómicos, transcriptómicos, proteómicos y metabolómicos a gran escala. Este dominio aborda el alineamiento de secuencias, el ensamblaje genómico, la elaboración de perfiles de expresión génica, la predicción de la estructura proteica y las redes de interacción molecular, lo que facilita el conocimiento de la función molecular, las relaciones evolutivas y los mecanismos de las enfermedades. Los avances en el desarrollo de algoritmos, las aplicaciones de aprendizaje automático y el procesamiento de datos de alto rendimiento permiten una anotación integral, la interpretación de variantes y el modelado a nivel de sistemas. La siguiente colección recopila las últimas publicaciones científicas e innovaciones patentadas centradas en herramientas computacionales, gestión de bases de datos, procesos analíticos y enfoques integradores esenciales para el avance de la investigación biológica y la medicina de precisión.
Esta es nuestra última selección de publicaciones y patentes mundiales en inglés sobre Bioinformática, entre muchas revistas científicas online, clasificadas y centradas en secuenciación genómica, alineamiento de secuencias, predicción de estructuras proteicas, filogenética, expresión génica, secuenciación de nueva generación, bioinformática, genómica computacional, transcriptómica, metagenómica, análisis de datos proteómicos, acoplamiento molecular, bases de datos biológicos, bioinformática estructural, anotación genómica, llamada de variantes, epigenómica, biología de sistemas, genómica comparativa, genómica funcional, análisis de RNA-Seq, bioestadística, biología computacional, descubrimiento de biomarcadores, análisis de vías y metabolómica.
Bridging language phenotypes, neural dynamics and gene regulation in autism
Published on 2026-10-16 by @MIT
Abstract: AbstractAutism Spectrum Disorders (ASDs) affect approximately 1% of the global population, with prevalence rising over recent decades. Although ASDs are heritable (~70%), translating genetic findings into effective therapeutics remains challenging due to the vast number of implicated risk genes (>700) and the limited influence of individual genes on disease expression. Their collective impact and convergent expression patterns of small-effect genes provide insights into ASD-related neurobiolo[...]
Our summary: This study explores the relationship between genetic variation, neural oscillatory dynamics, and language impairments in autism spectrum disorders. It proposes a framework that integrates neuroimaging and gene expression to better understand ASD mechanisms. The approach aims to inform targeted interventions by linking biological pathways to behavioral phenotypes.
Autism, Gene Regulation, Neural Dynamics, Language Deficits
Publication
Methods and compositions for altering gene expression
Patent published on the 2026-10-15 in WO under Ref WO2026217747 by EMUGEN THERAPEUTICS LLC [US] (Wilde Jonathan J [us], Kaiser Tobias [us], Gao Xian [us], Brevnova Olga [us], Aida Tomomi [us], Hou Yuanyuan [us], Brown Tyler [us])
Abstract: Provided herein, inter alia, are expression systems capable of modulating expression of a target gene. In some embodiments, the expression systems silence the expression of an endogenous version of the gene and induce expression of a recombinant version of the gene. The expression system provided herein is contemplated to be effective for treating genetic disorders.[...]
Our summary: This content discusses methods for altering gene expression using expression systems. These systems can silence endogenous genes while inducing recombinant gene expression. The approach is intended for potential treatment of genetic disorders.
gene expression, expression systems, genetic disorders, recombinant genes
Patent
Systems and methods for automated harmonization of biological sample measurements using out of band biological sample measurements
Patent published on the 2026-10-08 in US under Ref US20260311874 by ALDEN SCIENT INC [US] (Heywood James A [us], Vaughan Timothy E [us], Mcgary Kriston L [us], Cerrato Dean E [us])
Abstract: [0000] Systems and methods for automated harmonization of biological sample measurements across multi-omics datasets align data from diverse measurement platforms, such as proteomics and genomics, by leveraging out-of-band health-related measurements (e.g., genomic data, clinical biomarkers) to correct biases and variability. A machine learning model identifies similar subjects across datasets based on health-related metrics, enabling dynamic scaling and adjustment of measurement-of-interest dat[...]
Our summary: The system automates the harmonization of biological sample measurements across various multi-omics datasets. It utilizes out-of-band health-related measurements to correct biases and improve data consistency. Applications include enhancing predictive models and supporting clinical decision-making through accurate biomarker discovery.
automated harmonization, multi-omics datasets, machine learning, clinical decision-making
Patent
Phylogenetic inference carried out concurrently with a sequencing operation
Patent published on the 2026-10-01 in US under Ref US20260301853 by IBM [US] (Krishna Ritesh Vijay [gb], Gardiner Laura-jayne [gb], Elisseev Vadim [gb])
Abstract: A method, computer program product, and computer system infer phylogenic relationships concurrently with a sequencing operation. The inferring includes, while sequencing data is in production by a sequencing machine, accessing the sequencing data, mapping sequence reads from the accessed sequencing data to identify sequence reads corresponding to orthologous genes of interest, and placing the identified sequence reads into respective namespaces for the corresponding orthologous genes in the in-m[...]
Our summary: This method infers phylogenetic relationships during sequencing. It accesses and maps sequence reads to identify orthologous genes. Identified reads are organized in an in-memory database.
phylogenetic inference, sequencing operation, orthologous genes, in-memory database
Patent
Methods and systems for characterizing aging in a subject
Patent published on the 2026-09-24 in WO under Ref WO2026198712 by TRUSTEES OF TUFTS COLLEGE [US] (Levin Michael [us], Lopez LÉo [us])
Abstract: Disclosed herein are systems and methods of characterizing aging in a subject, including: obtaining gene expression data collected from a plurality of samples from the subject; identifying a plurality of differentially expressed genes based on the gene expression data; determining an age signature of each sample in the plurality of samples based on the plurality of differentially expressed genes; characterizing aging in the subject based on the determined age signature of each sample in the plur[...]
Our summary: This content describes methods for characterizing aging in a subject. It involves obtaining gene expression data from multiple samples and identifying differentially expressed genes. The age signature is determined for each sample to characterize the subject s aging.
gene expression, aging characterization, differential expression, age signature
Patent
Methods for predicting responsiveness to daratumumab in a cancer subject
Patent published on the 2026-09-24 in US under Ref US20260286445 by ALLARITY THERAPEUTICS INC [US] (Knudsen Steen [dk])
Abstract: Featured are methods, devices, and kits for detecting gene expression in a subject with a cancer and methods for determining responsiveness of a subject with a cancer to a treatment, such as treatment with daratumumab. Also disclosed are methods of treating a subject patient with a cancer by administering a treatment, e.g., treatment with daratumumab, in particular when the subject is determined to be responsive to the treatment based on the expression of the biomarkers described herein.[...]
Our summary: This content discusses methods for predicting responsiveness to daratumumab in cancer patients. It includes techniques for detecting gene expression and determining treatment responsiveness. Additionally, it outlines treatment protocols based on identified biomarkers.
biomarkers, daratumumab, gene expression, cancer treatment
Patent
Designing proteins by simulated annealing using a protein structure prediction neural network
Patent published on the 2026-09-24 in US under Ref US20260290495 by GDM HOLDING LLC [US] (Townshend Raphael John Lamarre [us], Jumper John [gb], Reiman David [us], Kohl Simon [gb], Adler Jonas Anders [gb], Senior Andrew W [gb])
Abstract: [0000] Methods, systems, and apparatus, including computer programs encoded on a computer storage medium, for designing a protein to satisfy one or more design criteria. In one aspect, a method comprises, at each of a plurality of iterations: modifying a current amino acid sequence to generate an alternative amino acid sequence; providing an input comprising a representation of the alternative amino acid sequence to a structure prediction neural network that is configured to process the input to[...]
Our summary: The method involves iteratively modifying amino acid sequences to design proteins. A structure prediction neural network processes these sequences to predict protein structures. The design score assesses how well the sequences meet specified design criteria.
protein design, simulated annealing, neural network, structure prediction
Patent
Hyperpolarized 13 C-bicarbonate production correlates with excitatory neuron distribution in the human brain
Published on 2026-09-01 by @MIT
Abstract: AbstractWhole-brain metabolic topography measured with hyperpolarized 13C-pyruvate MRI in 40 healthy individuals was correlated with microarray transcriptomic data from the Allen Human Brain Atlas. Spatial autocorrelation was addressed using both model-based and non-model-based methods, and two parcellation atlases with different numbers of regions were employed to reduce the likelihood of false positives. Brain regions with higher expression of transcripts characteristic of excitatory neurons s[...]
Our summary: Hyperpolarized 13C-bicarbonate production is linked to the distribution of excitatory neurons in the human brain. The study utilized hyperpolarized 13C-pyruvate MRI and transcriptomic data to explore metabolic topography. Findings reveal a correlation between gene expression patterns and metabolic profiles, enhancing understanding of brain tissue organization.
Hyperpolarized MRI, 13C-bicarbonate, excitatory neurons, metabolic neuroimaging
Publication
