Collecting phenotypic data from many individuals is critical to answering fundamental biological questions, particularly in genetics. Yet, whole organismal phenotypic data are still often collected manually; limiting the scale of data generation, pre...
The digitization of natural history specimens has unlocked opportunities for large-scale phenotypic trait analysis. In recent years, deep learning has shown significant results in accurately predicting annotations on 2D specimen photographs. However,...
The journal of applied laboratory medicine
Sep 3, 2025
BACKGROUND: The D-elution (DEL) phenotype is serologically mislabeled as Rh-negative because of the very low amount of D antigen on red blood cells. The adsorption-elution test and genotyping are recommended tests for confirmation. However, turnaroun...
Expert review of endocrinology & metabolism
Sep 1, 2025
INTRODUCTION: Type 2 diabetes (T2D) continues to worsen globally alongside rise in obesity. Asymptomatic dysglycaemia, which precedes T2D, provides opportunities to identify those at risk and target prevention but prediabetes is highly variable. Not ...
PURPOSE OF REVIEW: Interstitial lung disease (ILD) presents significant diagnostic and therapeutic challenges due to underlying biological heterogeneity and variable clinical course. Traditional diagnostic and prognostic tools are limited in their ab...
Cacao (Theobroma cacao), the source of chocolate, is threatened by devastating diseases like frosty pod rot (FPR) and witches' broom disease (WBD), impacting global production and farmer livelihoods. Here, we employ a machine learning-driven genome-w...
The identification of key features and reliable phenotype classification remains pivotal in cancer research, with direct implications for early diagnosis, prognosis, treatment optimization, and cost reduction in healthcare. This study introduces a hy...
The association of a given human phenotype with a genetic variant remains a critical challenge in biomedical research. We present PhenoLinker, a novel graph-based system capable of associating a score to a phenotype-gene relationship by using heterog...
Linking genotype and phenotype is a fundamental challenge in biology. In this respect, machine learning is playing a pivotal role in systems biology. As central phenotypic traits, fruit development and relative growth rate (RGR) result from interacti...
Journal of chemical information and modeling
Aug 11, 2025
Recent advances in human genomics have revealed that missense mutations in a single protein can lead to distinctly different phenotypes. In particular, some mutations in oncoproteins like MEK1, MEK2, PI3Kα, PTEN, SHAP2, and RAS are linked various can...
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