AIMC Topic: Phenotype

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Active learning framework leveraging transcriptomics identifies modulators of disease phenotypes.

Science (New York, N.Y.)
Phenotypic drug screening remains constrained by the vastness of chemical space and the technical challenges of scaling experimental workflows. To overcome these barriers, computational methods have been developed to prioritize compounds, but they re...

The relationship between amyloid-β peptide spectrum and the spastic paraparesis phenotype in autosomal dominant Alzheimer's disease.

Alzheimer's research & therapy
BACKGROUND: More than 300 mutations in presenilin 1 (PSEN1) lead to autosomal dominant Alzheimer's disease (ADAD). PSEN1, as the catalytic subunit of γ-secretase, generates amyloid-β (Aβ) peptides through a sequential proteolysis of the amyloid precu...

Time-Lapse Deep Learning for Single-Cell Subcellular Structural Phenotypic Antimicrobial Susceptibility Testing.

Analytical chemistry
Antimicrobial resistance (AMR) is a global health concern that complicates the effective treatment of infections, resulting in an increased severity of illness and elevated healthcare costs. Traditional phenotypic antimicrobial susceptibility testing...

Aetiological clustering of newly diagnosed type 2 diabetes using machine learning: a retrospective cross-sectional study in Dubai, UAE.

BMJ open
OBJECTIVES: Type 2 diabetes (T2D) is a complex disease with a heterogeneous clinical presentation. Recently, five distinct clusters of T2D have been identified in the Emirati population of long-standing T2D with complications. This study aimed to val...

Data-driven cluster analysis identifies three clinical phenotypes in hemodialysis patients.

Renal failure
Clinical heterogeneity among hemodialysis patients necessitates precision medicine approaches transcending conventional single-parameter management. Through machine learning analysis of 1,207 maintenance hemodialysis patients, we developed a novel tw...

Distinct immune-metabolic phenotypes underlie poor coronary collateral circulation.

Cardiovascular diabetology
BACKGROUND: Coronary collateral circulation (CCC) significantly impacts myocardial perfusion and clinical outcomes in coronary artery disease patients, yet the underlying molecular heterogeneity remains inadequately characterized.

Comparative assessment of annotation tools reveals critical antimicrobial resistance knowledge gaps in Klebsiella pneumoniae.

Scientific reports
Bacterial antimicrobial resistance (AMR) poses a significant public health threat. The increase of both global awareness and affordable whole genome sequencing has yielded an ever-growing collection of bacterial genome sequence datasets and correspon...

Multiomic insights into sucrose accumulation in sugarcane.

Plant molecular biology
Sugarcane holds significant economic importance in sugar and biofuel production. Despite extensive research, understanding highly quantitative traits remains challenging due to its complex genomic landscape. We conducted a multiomic investigation to ...

Identifying Stigma Phenotypes in Social Media Narratives of Substance Use: Observational Study.

Journal of medical Internet research
BACKGROUND: Individuals with substance use problems experience stigma in different contexts. Identifying characteristic situations in which stigma occurs or manifests-stigma phenotypes-can serve as important leverage points for future intervention.

Using Digital Phenotypes to Identify Individuals With Alexithymia in Posttraumatic Stress Disorder: Cross-Sectional Study.

JMIR mental health
BACKGROUND: Alexithymia, defined as difficulty identifying and describing one's emotions, has been identified as a transdiagnostic emotional process that impacts the course, severity, and treatment outcomes of psychiatric conditions such as posttraum...