Advancing Livestock Technology: Intelligent Systemization for Enhanced Productivity, Welfare, and Sustainability

AgriEngineering, Journal Year: 2024, Volume and Issue: 6(2), P. 1479 - 1496

Published: May 28, 2024

The livestock industry is undergoing significant transformation with the integration of intelligent technologies aimed at enhancing productivity, welfare, and sustainability. This review explores latest advancements in systemization (IS), including real-time monitoring, machine learning (ML), Internet Things (IoT), their impacts on farming. aim this study to provide a comprehensive overview how these can address challenges by improving animal health, optimizing resource use, promoting sustainable practices. methods involve an extensive current literature case studies data analytics, automation feeding climate control, renewable energy integration. results indicate that IS enhances well-being through health monitoring early disease detection, optimizes efficiency, reduces operational costs automation. Furthermore, contribute environmental sustainability minimizing waste reducing ecological footprint highlights transformative potential creating more efficient, humane, industry.

Language: Английский

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The Third-Generation Sequencing Challenge: Novel Insights for the Omic Sciences

Biomolecules, Journal Year: 2024, Volume and Issue: 14(5), P. 568 - 568

Published: May 10, 2024

The understanding of the human genome has been greatly improved by advent next-generation sequencing technologies (NGS). Despite undeniable advantages responsible for their widespread diffusion, these methods have some constraints, mainly related to short read length and need PCR amplification. As a consequence, long-read sequencers, called third-generation (TGS), developed, promising overcome NGS. Starting from first prototype, TGS progressively ameliorated its chemistries improving both base-calling accuracy, as well simultaneously reducing costs/base. Based on premises, is showing potential in many fields, including analysis difficult-to-sequence genomic regions, structural variations detection, RNA expression profiling, DNA methylation study, metagenomic analyses. Protocol standardization development easy-to-use pipelines data will enhance use, also opening way routine applications diagnostic contexts.

Language: Английский

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The impact and future of artificial intelligence in medical genetics and molecular medicine: an ongoing revolution

Functional & Integrative Genomics, Journal Year: 2024, Volume and Issue: 24(4)

Published: Aug. 1, 2024

Language: Английский

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Apport de la génomique dans la prise en charge des cancers

Revue Francophone des Laboratoires, Journal Year: 2025, Volume and Issue: 2025(568), P. 67 - 74

Published: Jan. 1, 2025

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De la microscopía a la secuenciación genética: La evolución en las técnicas de diagnóstico de la Leucemia Linfoide Aguda

Bionatura journal :, Journal Year: 2025, Volume and Issue: 2(1), P. 1 - 21

Published: Jan. 11, 2025

La Leucemia Linfoide Aguda (LLA) es una enfermedad hematológica muy heterogénea que afecta tanto a niños como adultos, cuyas tasas de curación han incrementado con el pasar los años. Esto se debe la evolución en las técnicas diagnóstico, contribuido realizar detección más temprana y precisa, monitorear LLA reconocer pronóstico. El objetivo del presente artículo proporcionar revisión comprensiva actualizada sobre avances utilizadas para diagnóstico LLA. Se encontró parte resultados dados por convencionales hemograma análisis morfología celular. Sin embargo, estas deben ser complementadas avanzadas cariotipo, Fluorescence in Situ Hybridization (FISH), RT-PCR detectan alteraciones mutaciones nivel molecular. Además otras NGS, que, aunque aún limitan laboratorios investigación siguen brindando información útil. Estos mejorado significativamente identificación subtipos moleculares genéticas, cuales son clave estratificación riesgo pronóstico, no puede dejar atrás convencionales, ya punto partida realización posteriores. Palabras Clave: cariotipo convencional; FISH; hemograma; Aguda; NGS; RT-PCR.

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Exploring the Pharmacogenomic Map of Croatia: PGx Clustering of 522-Patient Cohort Based on UMAP + HDBSCAN Algorithm

International Journal of Molecular Sciences, Journal Year: 2025, Volume and Issue: 26(2), P. 589 - 589

Published: Jan. 12, 2025

Pharmacogenetics is a branch of genomic medicine aiming to personalize drug prescription guidelines based on individual genetic information. This concept might lead reduction in adverse reactions, which place heavy burden patients’ health and the economy healthcare system. The aim this study was present insights gained from pharmacogenetics-based clustering over 500 patients Croatian population. data used article were obtained by pharmacogenetic testing 522 clustered genotypes 28 pharmacologically relevant genes. Dimensionality employed using UMAP algorithm, after clusters defined HDBSCAN. Validation performed decision tree analysis predictive modeling RandomForest, XGBoost, ExtraTrees classification algorithms. algorithm six two components (silhouette score = 0.782). Decision demonstrated CYP2D6 SLCO1B1 as main points cluster determination. Predictive an excellent ability discern each patient all genes (avg. ROC-AUC 0.998), 1.000), alone 0.910). Membership provided clinically information, context ruling out certain favorable or unfavorable phenotypes. However, study’s limitation its cohort size. Through further research investigation larger number patients, more accurate applicable associations between phenotypes be discovered.

Language: Английский

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Quantifying hope: an EU perspective of rare disease therapeutic space and market dynamics

Frontiers in Public Health, Journal Year: 2025, Volume and Issue: 13

Published: Feb. 3, 2025

Rare diseases, affecting millions globally, pose a significant healthcare burden despite impacting small population. While approximately 70% of all rare diseases are genetic and often begin in childhood, diagnosis remains slow only 5% have approved treatments. The UN emphasizes improved access to primary care (diagnostic potentially therapeutic) for these patients their families. Next-generation sequencing (NGS) offers hope earlier more accurate diagnoses, leading preventative measures targeted therapies. In here, we explore the therapeutic landscape analyzing drugs development those already by European Medicines Agency (EMA). We differentiate between orphan with market exclusivity repurposed existing drugs, both crucial patients. By size, segmentation, publicly available data, this comprehensive study aims pave way understanding treatment wider knowledge accessibility disease

Language: Английский

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In Silico Validation of OncoOrigin: An Integrative AI Tool for Primary Cancer Site Prediction with Graphical User Interface to Facilitate Clinical Application

International Journal of Molecular Sciences, Journal Year: 2025, Volume and Issue: 26(6), P. 2568 - 2568

Published: March 13, 2025

Cancers of unknown primary (CUPs) represent a significant diagnostic and therapeutic challenge in the field oncology. Due to limitations current tools these cases, novel approaches must be brought forward improve treatment outcomes for patients. The objective this study was develop machine-learning-based software cancer site prediction (OncoOrigin), based on genetic data acquired from tumor DNA sequencing. By design, an silico study, conducted using cBioPortal database (accessed 21 September 2024) several processing machine learning Python libraries. involved over 20,000 samples with information patient age, sex, presence variants 600 genes. main outcome interest discrimination between classes. Model quality assessed by training set cross-validation evaluation segregated test set. Finally, optimal model incorporated graphical user interface into OncoOrigin software. Feature importance class also determined model. Out four tested estimators, XGBoostClassifier-based proved superior evaluation, top-2 accuracy 0.91 ROC-AUC 0.97. Unlike other models published literature, stands out as only one integrated interface, which is crucial facilitating its use oncology specialists everyday clinical practice, where application implementation will have greatest value future.

Language: Английский

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The role of large language models in medical genetics

Molecular Genetics and Metabolism, Journal Year: 2025, Volume and Issue: unknown, P. 109098 - 109098

Published: March 1, 2025

Language: Английский

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Whole Genome Sequencing-Based Diagnosis of Spinocerebellar Ataxia Type 3 Repeat Expansion Neuromuscular Disorders in an Undiagnosed Patient: Breaking Past Diagnostic Boundaries

Neurology India, Journal Year: 2025, Volume and Issue: unknown

Published: March 28, 2025

Abstract Background: Spinocerebellar ataxia type 3 (SCA3) is a neuromuscular disorder (NMD) that complicated and progressive genetic disorder. SCA3 predominantly caused by repeat expansions (REs) of short tandem repeats (STRs). CAG expansion the ATXN3 gene transmitted in an autosomal dominant manner located on chromosomal position 14q32. Objective: The objective this study was to identify ATNX3 assess clinical accuracy whole genome sequencing (WGS) finding REs previously undiagnosed patients with for better management. Methods Materials: Thirty-three referral cases were analyzed using WGS triplet-repeat PCR (TP-PCR) techniques detect gene. Results: A case discovered be positive 59 revealed validated TP-PCR. This mutation found 26-year-old male patient who had been other tests. Conclusion: To validating inconclusive tests, propose could potentially implemented as frontline, cost-effective, less turnaround time molecular testing more accurate diagnoses better-informed treatment strategies.

Language: Английский

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