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Quantitative Trait Loci

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TSLRF: Two-Stage Algorithm Based on Least Angle Regression and Random Forest in genome-wide association studies.

Scientific reports
One of the most important tasks in genome-wide association analysis (GWAS) is the detection of single-nucleotide polymorphisms (SNPs) which are related to target traits. With the development of sequencing technology, traditional statistical methods a...

Convolutional neural network model to predict causal risk factors that share complex regulatory features.

Nucleic acids research
Major progress in disease genetics has been made through genome-wide association studies (GWASs). One of the key tasks for post-GWAS analyses is to identify causal noncoding variants with regulatory function. Here, on the basis of >2000 functional fe...

Statistical and Machine Learning Methods for eQTL Analysis.

Methods in molecular biology (Clifton, N.J.)
An immense amount of observable diversity exists for all traits and across global populations. In the post-genomic era, equipped with efficient sequencing capabilities and better genotyping methods, we are now able to more fully appreciate how regula...

DeepWAS: Multivariate genotype-phenotype associations by directly integrating regulatory information using deep learning.

PLoS computational biology
Genome-wide association studies (GWAS) identify genetic variants associated with traits or diseases. GWAS never directly link variants to regulatory mechanisms. Instead, the functional annotation of variants is typically inferred by post hoc analyses...

An enhanced machine learning tool for cis-eQTL mapping with regularization and confounder adjustments.

Genetic epidemiology
Many expression quantitative trait loci (eQTL) studies have been conducted to investigate the biological effects of variants in gene regulation. However, these eQTL studies may suffer from low or moderate statistical power and overly conservative fal...

Cross-species regulatory sequence activity prediction.

PLoS computational biology
Machine learning algorithms trained to predict the regulatory activity of nucleic acid sequences have revealed principles of gene regulation and guided genetic variation analysis. While the human genome has been extensively annotated and studied, mod...

Morphological traits of drought tolerant horse gram germplasm: classification through machine learning.

Journal of the science of food and agriculture
BACKGROUND: Horse gram (Macrotyloma uniflorum (Lam.) Verdc.) is an underutilized pulse crop with good drought resistance traits. It is a rich source of protein. Conventional breeding methods for high yielding and abiotic stress tolerant germplasm are...

How Machine Learning Methods Helped Find Putative Rye Wax Genes Among GBS Data.

International journal of molecular sciences
The standard approach to genetic mapping was supplemented by machine learning (ML) to establish the location of the rye gene associated with epicuticular wax formation (glaucous phenotype). Over 180 plants of the biparental F population were genotype...

lncRNAKB, a knowledgebase of tissue-specific functional annotation and trait association of long noncoding RNA.

Scientific data
Long non-coding RNA Knowledgebase (lncRNAKB) is an integrated resource for exploring lncRNA biology in the context of tissue-specificity and disease association. A systematic integration of annotations from six independent databases resulted in 77,19...

Combining artificial intelligence: deep learning with Hi-C data to predict the functional effects of non-coding variants.

Bioinformatics (Oxford, England)
MOTIVATION: Although genome-wide association studies (GWASs) have identified thousands of variants for various traits, the causal variants and the mechanisms underlying the significant loci are largely unknown. In this study, we aim to predict non-co...