AIMC Topic: Phenotype

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Improving Phenotyping of Patients With Immune-Mediated Inflammatory Diseases Through Automated Processing of Discharge Summaries: Multicenter Cohort Study.

JMIR medical informatics
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
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
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...

Human Phenotype Ontology Annotations for Rare Congenital Conditions: Application to Arthrogryposis Multiplex Congenita.

American journal of medical genetics. Part A
Arthrogryposis multiplex congenita (AMC) represents a large, rare group of congenital conditions. This study addressed major challenges in AMC research posed by the lack of systematic frameworks for data collection and the use of inconsistent termino...

Identifying progression subphenotypes of Alzheimer's disease from large-scale electronic health records with machine learning.

Journal of biomedical informatics
OBJECTIVE: Identification of clinically meaningful subphenotypes of disease progression can enhance the understanding of disease heterogeneity and underlying pathophysiology. In this study, we propose a machine learning framework to identify subpheno...

Biological Prior Knowledge-Embedded Deep Neural Network for Plant Genomic Prediction.

Genes
Genomic prediction is a powerful approach that predicts phenotypic traits from genotypic information, enabling the acceleration of trait improvement in plant breeding. Traditional genomic prediction methods have primarily relied on linear mixed mode...

Integrating sensor fusion with machine learning for comprehensive assessment of phenotypic traits and drought response in poplar species.

Plant biotechnology journal
Increased drought frequency and severity in a warming climate threaten the health and stability of forest ecosystems, influencing the structure and functioning of forests while having far-reaching implications for global carbon storage and climate re...

Integrating Deep Learning Models with Genome-Wide Association Study-Based Identification Enhanced Phenotype Predictions in Group A .

Journal of microbiology and biotechnology
Group A (GAS) is a major pathogen with diverse clinical outcomes linked to its genetic variability, making accurate phenotype prediction essential. While previous studies have identified many GAS-associated genetic factors, translating these finding...

Ontology-driven identification of inconsistencies in clinical data: A case study in lung cancer phenotyping.

Journal of biomedical informatics
OBJECTIVE: To illustrate the use of an ontology in evaluating data quality in the medical field, focusing on phenotyping lung cancers.