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Genome-Wide Association Study

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Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data.

Scientific reports
Crohn Disease (CD) is a complex genetic disorder for which more than 140 genes have been identified using genome wide association studies (GWAS). However, the genetic architecture of the trait remains largely unknown. The recent development of machin...

Multivariate Cluster-Based Multifactor Dimensionality Reduction to Identify Genetic Interactions for Multiple Quantitative Phenotypes.

BioMed research international
To understand the pathophysiology of complex diseases, including hypertension, diabetes, and autism, deleterious phenotypes are unlikely due to the effects of single genes, but rather, gene-gene interactions (GGIs), which are widely analyzed by multi...

fastJT: An R package for robust and efficient feature selection for machine learning and genome-wide association studies.

BMC bioinformatics
BACKGROUND: Parametric feature selection methods for machine learning and association studies based on genetic data are not robust with respect to outliers or influential observations. While rank-based, distribution-free statistics offer a robust alt...

Exploratory Gene Ontology Analysis with Interactive Visualization.

Scientific reports
The Gene Ontology (GO) is a central resource for functional-genomics research. Scientists rely on the functional annotations in the GO for hypothesis generation and couple it with high-throughput biological data to enhance interpretation of results. ...

A multi-task convolutional deep neural network for variant calling in single molecule sequencing.

Nature communications
The accurate identification of DNA sequence variants is an important, but challenging task in genomics. It is particularly difficult for single molecule sequencing, which has a per-nucleotide error rate of ~5-15%. Meeting this demand, we developed Cl...

Significant shared heritability underlies suicide attempt and clinically predicted probability of attempting suicide.

Molecular psychiatry
Suicide accounts for nearly 800,000 deaths per year worldwide with rates of both deaths and attempts rising. Family studies have estimated substantial heritability of suicidal behavior; however, collecting the sample sizes necessary for successful ge...

Machine Learning Models for Genetic Risk Assessment of Infants with Non-syndromic Orofacial Cleft.

Genomics, proteomics & bioinformatics
The isolated type of orofacial cleft, termed non-syndromic cleft lip with or without cleft palate (NSCL/P), is the second most common birth defect in China, with Asians having the highest incidence in the world. NSCL/P involves multiple genes and com...

Leveraging Multilayered "Omics" Data for Atopic Dermatitis: A Road Map to Precision Medicine.

Frontiers in immunology
Atopic dermatitis (AD) is a complex multifactorial inflammatory skin disease that affects ~280 million people worldwide. About 85% of AD cases begin in childhood, a significant portion of which can persist into adulthood. Moreover, a typical progress...

Porcine single nucleotide polymorphisms and their functional effect: an update.

BMC research notes
OBJECTIVE: To aid in the development of a comprehensive list of functional variants in the swine genome, single nucleotide polymorphisms (SNP) were identified from whole genome sequence of 240 pigs. Interim data from 72 animals in this study was publ...

Deep learning identifies genome-wide DNA binding sites of long noncoding RNAs.

RNA biology
Long noncoding RNAs (lncRNAs) can exert their function by interacting with the DNA via triplex structure formation. Even though this has been validated with a handful of experiments, a genome-wide analysis of lncRNA-DNA binding is needed. In this pap...