AIMC Topic: Phenotype
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Transcripts and genomic intervals associated with variation in metabolite abundance in maize leaves under field conditions.
BMC genomics
May 1, 2025
Plants exhibit extensive environment-dependent intraspecific metabolic variation, which likely plays a role in determining variation in whole plant phenotypes. However, much of the work seeking to use natural variation to link genes and transcript's ...
Gadoxetic acid-enhanced MRI for identifying cholangiocyte phenotype hepatocellular carcinoma by interpretable machine learning: individual application of SHAP.
BMC cancer
Apr 28, 2025
PURPOSE: Cholangiocyte phenotype hepatocellular carcinoma (HCC) is highly invasive. This study aims to develop and validate an optimal machine learning model to predict cholangiocyte phenotype HCC based on T1 mapping gadoxetic acid-enhanced MRI and t...
Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.
EBioMedicine
Apr 24, 2025
BACKGROUND: Decisions to split two or more phenotypic manifestations related to genetic variations within the same gene can be challenging, especially during the early stages of syndrome discovery. Genotype-based diagnostics with artificial intellige...
Harnessing genotype and phenotype data for population-scale variant classification using large language models and bayesian inference.
Human genetics
Apr 23, 2025
Variants of Uncertain Significance (VUS) in genetic testing for hereditary diseases burden patients and clinicians, yet clinical data that could reduce VUS are underutilized due to a lack of scalable strategies. We assessed whether a machine learning...
Breaking down data silos across companies to train genome-wide predictions: A feasibility study in wheat.
Plant biotechnology journal
Apr 20, 2025
Big data, combined with artificial intelligence (AI) techniques, holds the potential to significantly enhance the accuracy of genome-wide predictions. Motivated by the success reported for wheat hybrids, we extended the scope to inbred lines by integ...
Deep Visual Proteomics maps proteotoxicity in a genetic liver disease.
Nature
Apr 16, 2025
Protein misfolding diseases, including α1-antitrypsin deficiency (AATD), pose substantial health challenges, with their cellular progression still poorly understood. We use spatial proteomics by mass spectrometry and machine learning to map AATD in h...
A radiomics approach to distinguish Progressive Supranuclear Palsy Richardson's syndrome from other phenotypes starting from MR images.
Computer methods and programs in biomedicine
Apr 13, 2025
BACKGROUND AND OBJECTIVE: Progressive Supranuclear Palsy (PSP) is an uncommon neurodegenerative disorder with different clinical onset, including Richardson's syndrome (PSP-RS) and other variant phenotypes (vPSP). Recognising the clinical progression...
Improving Phenotyping of Patients With Immune-Mediated Inflammatory Diseases Through Automated Processing of Discharge Summaries: Multicenter Cohort Study.
JMIR medical informatics
Apr 9, 2025
BACKGROUND: Valuable insights gathered by clinicians during their inquiries and documented in textual reports are often unavailable in the structured data recorded in electronic health records (EHRs).
Low-cost algorithms for clinical notes phenotype classification to enhance epidemiological surveillance: A case study.
Journal of biomedical informatics
Apr 8, 2025
OBJECTIVE: Our study aims to enhance epidemic intelligence through event-based surveillance in an emerging pandemic context. We classified electronic health records (EHRs) from La Rioja, Argentina, focusing on predicting COVID-19-related categories i...
Machine learning of clinical phenotypes facilitates autism screening and identifies novel subgroups with distinct transcriptomic profiles.
Scientific reports
Apr 5, 2025
Autism spectrum disorder (ASD) presents significant challenges in diagnosis and intervention due to its diverse clinical manifestations and underlying biological complexity. This study explored machine learning approaches to enhance ASD screening acc...
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