AIMC Topic: Phenotype

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Gene-gene interaction detection with deep learning.

Communications biology
The extent to which genetic interactions affect observed phenotypes is generally unknown because current interaction detection approaches only consider simple interactions between top SNPs of genes. We introduce an open-source framework for increasin...

Deep learning-based predictions of clear and eosinophilic phenotypes in clear cell renal cell carcinoma.

Human pathology
We have recently shown that histological phenotypes focusing on clear and eosinophilic cytoplasm in clear cell renal cell carcinoma (ccRCC) correlated with prognosis and the response to angiogenesis inhibition and checkpoint blockade. This study aims...

Multiplexed high-throughput immune cell imaging reveals molecular health-associated phenotypes.

Science advances
Phenotypic plasticity is essential to the immune system, yet the factors that shape it are not fully understood. Here, we comprehensively analyze immune cell phenotypes including morphology across human cohorts by single-round multiplexed immunofluor...

G2Φnet: Relating genotype and biomechanical phenotype of tissues with deep learning.

PLoS computational biology
Many genetic mutations adversely affect the structure and function of load-bearing soft tissues, with clinical sequelae often responsible for disability or death. Parallel advances in genetics and histomechanical characterization provide significant ...

Addressing Noise and Estimating Uncertainty in Biomedical Data through the Exploration of Chemical Space.

International journal of molecular sciences
Noise is a basic ingredient in data, since observed data are always contaminated by unwanted deviations, i.e., noise, which, in the case of overdetermined systems (with more data than model parameters), cause the corresponding linear system of equati...

[Artificial intelligence in the diagnosis of rare disorders: the development of phenotype analysis].

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
Rare diseases can often be diagnosed by carefully assessing the phenotype of the patient, as characteristic deviations (dysmorphisms) occur in many genetic diseases. These affect, for example, the features of the face - the "facial gestalt."This pape...

Phenotyping in clinical text with unsupervised numerical reasoning for patient stratification.

Experimental biology and medicine (Maywood, N.J.)
Phenotypic information of patients, as expressed in clinical text, is important in many clinical applications such as identifying patients at risk of hard-to-diagnose conditions. Extracting and inferring some phenotypes from clinical text requires nu...

Logistic Regression With Machine Learning Sheds Light on the Problematic Sexual Behavior Phenotype.

Journal of addiction medicine
OBJECTIVES: There has been a longstanding debate about whether the mechanisms involved in problematic sexual behavior (PSB) are similar to those observed in addictive disorders, or related to impulse control or to compulsivity. The aim of this report...

Self-supervised classification of subcellular morphometric phenotypes reveals extracellular matrix-specific morphological responses.

Scientific reports
Cell morphology is profoundly influenced by cellular interactions with microenvironmental factors such as the extracellular matrix (ECM). Upon adhesion to specific ECM, various cell types are known to exhibit different but distinctive morphologies, s...

Neural network and Bayesian-based prediction of breeding values in Beetal goat.

Tropical animal health and production
The estimation of breeding values is prime concern for animal breeders in order to achieve desired genetic progress of farm animals. However, current methods for estimating BV involve simultaneous selection of animal model which are computationally i...