AIMC Topic: Phenotype

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Phenotype Discovery and Geographic Disparities of Late-Stage Breast Cancer Diagnosis across U.S. Counties: A Machine Learning Approach.

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
BACKGROUND: Disparities in the stage at diagnosis for breast cancer have been independently associated with various contextual characteristics. Understanding which combinations of these characteristics indicate highest risk, and where they are locate...

MTGNN: Multi-Task Graph Neural Network based few-shot learning for disease similarity measurement.

Methods (San Diego, Calif.)
Similar diseases are usually caused by molecular origins or similar phenotypes. Confirming the relationship between diseases can help researchers gain a deep insight of the pathogenic mechanisms of emerging complex diseases, and improve the correspon...

Development and validation of a weakly supervised deep learning framework to predict the status of molecular pathways and key mutations in colorectal cancer from routine histology images: a retrospective study.

The Lancet. Digital health
BACKGROUND: Determining the status of molecular pathways and key mutations in colorectal cancer is crucial for optimal therapeutic decision making. We therefore aimed to develop a novel deep learning pipeline to predict the status of key molecular pa...

Image-based deep learning reveals the responses of human motor neurons to stress and VCP-related ALS.

Neuropathology and applied neurobiology
AIMS: Although morphological attributes of cells and their substructures are recognised readouts of physiological or pathophysiological states, these have been relatively understudied in amyotrophic lateral sclerosis (ALS) research.

Deep semi-supervised learning ensemble framework for classifying co-mentions of human proteins and phenotypes.

BMC bioinformatics
BACKGROUND: Identifying human protein-phenotype relationships has attracted researchers in bioinformatics and biomedical natural language processing due to its importance in uncovering rare and complex diseases. Since experimental validation of prote...

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.

Genome medicine
BACKGROUND: Clinical interpretation of genetic variants in the context of the patient's phenotype is becoming the largest component of cost and time expenditure for genome-based diagnosis of rare genetic diseases. Artificial intelligence (AI) holds p...

Blood-Based Immune Profiling Combined with Machine Learning Discriminates Psoriatic Arthritis from Psoriasis Patients.

International journal of molecular sciences
Psoriasis (Pso) is a chronic inflammatory skin disease, and up to 30% of Pso patients develop psoriatic arthritis (PsA), which can lead to irreversible joint damage. Early detection of PsA in Pso patients is crucial for timely treatment but difficult...

Genetic variant effect prediction by supervised nonnegative matrix tri-factorization.

Molecular omics
Discriminating between deleterious and neutral mutations among numerous non-synonymous single nucleotide variants (nsSNVs) that may be observed through whole exome sequencing (WES) is considered a great challenge. In this regard, many machine learnin...

Investigation of a dysmorphic facial phenotype in patients with Gaucher disease types 2 and 3.

Molecular genetics and metabolism
Gaucher disease (GD) is a rare lysosomal storage disorder that is divided into three subtypes based on presentation of neurological manifestations. Distinguishing between the types has important implications for treatment and counseling. Yet, patient...

Spatial rank-based multifactor dimensionality reduction to detect gene-gene interactions for multivariate phenotypes.

BMC bioinformatics
BACKGROUND: Identifying interaction effects between genes is one of the main tasks of genome-wide association studies aiming to shed light on the biological mechanisms underlying complex diseases. Multifactor dimensionality reduction (MDR) is a popul...