AIMC Topic: Genome-Wide Association Study

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Identification of biological correlates associated with respiratory failure in COVID-19.

BMC medical genomics
BACKGROUND: Coronavirus disease 2019 (COVID-19) is a global public health concern. Recently, a genome-wide association study (GWAS) was performed with participants recruited from Italy and Spain by an international consortium group.

Statistical and Machine-Learning Analyses in Nutritional Genomics Studies.

Nutrients
Nutritional compounds may have an influence on different OMICs levels, including genomics, epigenomics, transcriptomics, proteomics, metabolomics, and metagenomics. The integration of OMICs data is challenging but may provide new knowledge to explain...

Deep neural network improves the estimation of polygenic risk scores for breast cancer.

Journal of human genetics
Polygenic risk scores (PRS) estimate the genetic risk of an individual for a complex disease based on many genetic variants across the whole genome. In this study, we compared a series of computational models for estimation of breast cancer PRS. A de...

Genome-wide association study-based deep learning for survival prediction.

Statistics in medicine
Informative and accurate survival prediction with individualized dynamic risk profiles over time is critical for personalized disease prevention and clinical management. The massive genetic data, such as SNPs from genome-wide association studies (GWA...

Evaluating the informativeness of deep learning annotations for human complex diseases.

Nature communications
Deep learning models have shown great promise in predicting regulatory effects from DNA sequence, but their informativeness for human complex diseases is not fully understood. Here, we evaluate genome-wide SNP annotations from two previous deep learn...

Machine Learning based histology phenotyping to investigate the epidemiologic and genetic basis of adipocyte morphology and cardiometabolic traits.

PLoS computational biology
Genetic studies have recently highlighted the importance of fat distribution, as well as overall adiposity, in the pathogenesis of obesity-associated diseases. Using a large study (n = 1,288) from 4 independent cohorts, we aimed to investigate the re...

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...

An ensemble approach for CircRNA-disease association prediction based on autoencoder and deep neural network.

Gene
Circular RNAs (circRNA) are a special kind of covalently closed single-stranded RNA molecules. They have been shown to control and coordinate various biological processes. Recent researches show that circRNAs are closely associated with numerous chro...

VEPAD - Predicting the effect of variants associated with Alzheimer's disease using machine learning.

Computers in biology and medicine
INTRODUCTION: Alzheimer's disease (AD) is a complex and heterogeneous disease that affects neuronal cells over time and it is prevalent among all neurodegenerative diseases. Next Generation Sequencing (NGS) techniques are widely used for developing h...

Chances and challenges of machine learning-based disease classification in genetic association studies illustrated on age-related macular degeneration.

Genetic epidemiology
Imaging technology and machine learning algorithms for disease classification set the stage for high-throughput phenotyping and promising new avenues for genome-wide association studies (GWAS). Despite emerging algorithms, there has been no successfu...