AIMC Topic: Genome-Wide Association Study

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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...

Introducing Heuristic Information Into Ant Colony Optimization Algorithm for Identifying Epistasis.

IEEE/ACM transactions on computational biology and bioinformatics
Epistasis learning, which is aimed at detecting associations between multiple Single Nucleotide Polymorphisms (SNPs) and complex diseases, has gained increasing attention in genome wide association studies. Although much work has been done on mapping...

Novel Neural Network Approach to Predict Drug-Target Interactions Based on Drug Side Effects and Genome-Wide Association Studies.

Human heredity
AIMS: We propose a novel machine learning approach to expand the knowledge about drug-target interactions. Our method may help to develop effective, less harmful treatment strategies and to enable the detection of novel indications for existing drugs...

Data mining and machine learning approaches for the integration of genome-wide association and methylation data: methodology and main conclusions from GAW20.

BMC genetics
BACKGROUND: Multiple layers of genetic and epigenetic variability are being simultaneously explored in an increasing number of health studies. We summarize here different approaches applied in the Data Mining and Machine Learning group at the GAW20 t...