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Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53
Published 2025-10-01“…These variants also have a higher population frequency than pathogenic variants, and heterozygotes tend to manifest disease later in life, suggesting a need for refined clinical criteria to better capture attenuated Li-Fraumeni syndrome phenotypes. Finally, by applying a random forest prediction model to all TP53 uncertain or conflicting variants in ClinVar, we identified 106 additional variants with potential reduced penetrance.…”
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Investigation of possible predictive factors, clinical characteristics, and treatment in vascular Behçet's disease: real-life data from a single center
Published 2024-10-01“… Objective: The aim of this study was to investigate the phenotypes, predictive factors, and treatment approach of Behçet's patients with vascular involvement.Material and Method: This retrospective study analyzed 123 patients with Behçet's disease, 28 of whom had vascular involvement, and were followed up in our center. …”
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686
Optimisation of variance component estimation and genomic prediction in a commercial crossbred population of Duroc x (Landrace x Yorkshire) three-way pigs
Published 2025-05-01“…The combination of accurate VC estimation from random CB and the advantage of extreme phenotypic CB in prediction accuracy allows the mixed reference populations to achieve a superior predictive performance in GS. …”
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687
CADASIL: A NOTCH3-associated cerebral small vessel disease
Published 2024-12-01“…However, since that time other genetic CSVDs have been described, including the HtrA serine peptidase 1 gene-associated CSVD and the cathepsin A gene-associated CSVD, that clinically mimic the original phenotype. Though NOTCH3-associated CSVD is now a well-recognized hereditary disorder and the number of studies investigating this disease is increasing, the role of NOTCH3 in the pathogenesis of CADASIL remains elusive. …”
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Does the IL-6/KL-6 ratio distinguish different phenotypes in COVID-19 Acute Respiratory Distress Syndrome? An observational study stemmed from prospectively derived clinical, biolo...
Published 2025-01-01“…We hypothesized that the ratio of two pivotal COVID-19 biomarkers (interleukin 6 [IL-6] and Krebs von den Lungen 6 [KL-6], related to inflammation and pneumocyte repair, respectively) would provide a biologic insight into the disease timeline allowing 1) to differentiate H, I and L phenotypes, 2) to predict outcome and 3) to reflect some of CT findings.…”
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A compact encoding of the genome suitable for machine learning prediction of traits and genetic risk scores
Published 2025-06-01“…Abstract Genotype to phenotype prediction is a central problem in biology and medicine. …”
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690
Powdery mildew resistance prediction in Barley (Hordeum Vulgare L) with emphasis on machine learning approaches
Published 2025-06-01“…Abstract By employing machine-learning models, this study utilizes agronomical and molecular features to predict powdery mildew disease resistance in Barley (Hordeum Vulgare L). …”
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Combining genome‐wide association and genomic prediction to unravel the genetic architecture of carotenoid accumulation in carrot
Published 2025-03-01“…We explored the accuracy of genomic prediction (GP) models to predict carotenoid concentration. …”
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Leveraging historical trials to predict Fusarium head blight resistance in spring wheat breeding programs
Published 2025-03-01“…Furthermore, genotypic values were predicted in breeding programs using the URSN population as a training set with various prediction scenarios. …”
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693
In-Season Predictions Using Chlorophyll <i>a</i> Fluorescence for Selecting Agronomic Traits in Maize
Published 2025-04-01“…Traditional maize (<i>Zea mays</i> L.) breeding approaches use directly measured phenotypic performance to make decisions for the next generation of crosses. …”
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PREDICTION OF LIVE WEIGHT THROUGH MORPHOMETRIC VARIABLES IN GOATS FROM BAJA CALIFORNIA SUR, MEXICO
Published 2025-03-01“…Regression models based on different morphometric measurements have been used as a practical, minimal cost and highly reliable method to predict live weight (LW) in goats; however, for the northwest region of Mexico there is no information available on the genetic and phenotypic variability of local goat populations, therefore, it is necessary to generate experiences on the efficiency of morphometric measurements to estimate LW in this area. …”
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Identification of a Gene Expression Signature to Predict the Risk of Abdominal Aortic Aneurysm in Psoriasis Patients
Published 2025-04-01“…The gene signature generated by these genes demonstrated high accuracy in predicting psoriasis and AAA. Using five algorithms for immune infiltration analysis, an abundance of inflammatory cells was observed in high-risk subgroups. …”
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varCADD: large sets of standing genetic variation enable genome-wide pathogenicity prediction
Published 2025-08-01“…Abstract Background Machine learning and artificial intelligence are increasingly being applied to identify phenotypically causal genetic variation. These data-driven methods require comprehensive training sets to deliver reliable results. …”
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Machine learning-based prediction of antibiotic resistance in Mycobacterium tuberculosis clinical isolates from Uganda
Published 2024-12-01“…HIV status was also identified among the top significant features in predicting drug resistance. Conclusion Leveraging machine learning applications in predicting antimicrobial resistance represents a promising avenue in addressing the global health challenge posed by antimicrobial resistance. …”
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MtCro: multi-task deep learning framework improves multi-trait genomic prediction of crops
Published 2025-02-01“…Furthermore, comparative analysis shows a consistent 2-3% improvement in multi-phenotype predictions, emphasizing the impact of inter-phenotype correlations on accuracy. …”
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