AIMC Topic: Genetic Association Studies

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Prioritizing and characterizing functionally relevant genes across human tissues.

PLoS computational biology
Knowledge of genes that are critical to a tissue's function remains difficult to ascertain and presents a major bottleneck toward a mechanistic understanding of genotype-phenotype links. Here, we present the first machine learning model-FUGUE-combini...

DeepPheno: Predicting single gene loss-of-function phenotypes using an ontology-aware hierarchical classifier.

PLoS computational biology
Predicting the phenotypes resulting from molecular perturbations is one of the key challenges in genetics. Both forward and reverse genetic screen are employed to identify the molecular mechanisms underlying phenotypes and disease, and these resulted...

Correlations Between Phenotypes and Biological Process Ontologies in Monogenic Human Diseases.

Interdisciplinary sciences, computational life sciences
A substantial body of research is focused to improve the understanding of the relationship between genotypes and phenotypes. Genotype-phenotype studies have shown promise in improving disease diagnosis in humans and identification of specific clinica...

Construction of gene-classifier and co-expression network analysis of genes in association with major depressive disorder.

Psychiatry research
Because the pathogenesis of major depressive disorder (MDD) is still unclear and the accurate diagnosis remains unavailable, we aimed to analyze its molecular mechanisms and develop a gene classifier to improve diagnostic accuracy. We extracted diffe...

Artificial intelligence powered statistical genetics in biobanks.

Journal of human genetics
Large-scale, sometimes nationwide, prospective genomic cohorts biobanking rich biological specimens such as blood, urine and tissues, have been established and released their vast amount of data in several countries. These genetic and epidemiological...

MAGPEL: an autoMated pipeline for inferring vAriant-driven Gene PanEls from the full-length biomedical literature.

Scientific reports
In spite of the efforts in developing and maintaining accurate variant databases, a large number of disease-associated variants are still hidden in the biomedical literature. Curation of the biomedical literature in an effort to extract this informat...

A Knowledge-Based Machine Learning Approach to Gene Prioritisation in Amyotrophic Lateral Sclerosis.

Genes
Amyotrophic lateral sclerosis is a neurodegenerative disease of the upper and lower motor neurons resulting in death from neuromuscular respiratory failure, typically within two to five years of first symptoms. Several rare disruptive gene variants h...

A novel graph attention adversarial network for predicting disease-related associations.

Methods (San Diego, Calif.)
Identifying complex human diseases at molecular level is very helpful, especially in diseases diagnosis, therapy, prognosis and monitoring. Accumulating evidences demonstrated that RNAs are playing important roles in identifying various complex human...

SDLDA: lncRNA-disease association prediction based on singular value decomposition and deep learning.

Methods (San Diego, Calif.)
In recent years, accumulating studies have shown that long non-coding RNAs (lncRNAs) not only play an important role in the regulation of various biological processes but also are the foundation for understanding mechanisms of human diseases. Due to ...