AIMC Topic: Genotype

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The impact of misclassification errors on the performance of biomarkers based on next-generation sequencing, a simulation study.

Journal of biopharmaceutical statistics
The development of next-generation sequencing (NGS) opens opportunities for new applications such as liquid biopsy, in which tumor mutation genotypes can be determined by sequencing circulating tumor DNA after blood draws. However, with highly dilute...

Circulating Biomarkers Instead of Genotyping to Establish Metabolizer Phenotypes.

Annual review of pharmacology and toxicology
Pharmacogenomics (PGx) enables personalized treatment for the prediction of drug response and to avoid adverse drug reactions. Currently, PGx mainly relies on the genetic information of absorption, distribution, metabolism, and excretion (ADME) targe...

deepGBLUP: joint deep learning networks and GBLUP framework for accurate genomic prediction of complex traits in Korean native cattle.

Genetics, selection, evolution : GSE
BACKGROUND: Genomic prediction has become widespread as a valuable tool to estimate genetic merit in animal and plant breeding. Here we develop a novel genomic prediction algorithm, called deepGBLUP, which integrates deep learning networks and a geno...

Detecting SNP markers discriminating horse breeds by deep learning.

Scientific reports
The assignment of an individual to the true population of origin using a low-panel of discriminant SNP markers is one of the most important applications of genomic data for practical use. The aim of this study was to evaluate the potential of differe...

DeepCGP: A Deep Learning Method to Compress Genome-Wide Polymorphisms for Predicting Phenotype of Rice.

IEEE/ACM transactions on computational biology and bioinformatics
Genomic selection (GS) is expected to accelerate plant and animal breeding. During the last decade, genome-wide polymorphism data have increased, which has raised concerns about storage cost and computational time. Several individual studies have att...

On modeling the correlates of conspiracy thinking.

Scientific reports
While a robust literature on the psychology of conspiracy theories has identified dozens of characteristics correlated with conspiracy theory beliefs, much less attention has been paid to understanding the generalized predisposition towards interpret...

Deep Learning Framework for Complex Disease Risk Prediction Using Genomic Variations.

Sensors (Basel, Switzerland)
Genome-wide association studies have proven their ability to improve human health outcomes by identifying genotypes associated with phenotypes. Various works have attempted to predict the risk of diseases for individuals based on genotype data. This ...

Cue: a deep-learning framework for structural variant discovery and genotyping.

Nature methods
Structural variants (SVs) are a major driver of genetic diversity and disease in the human genome and their discovery is imperative to advances in precision medicine. Existing SV callers rely on hand-engineered features and heuristics to model SVs, w...

Genetic Risk Assessment of Nonsyndromic Cleft Lip with or without Cleft Palate by Linking Genetic Networks and Deep Learning Models.

International journal of molecular sciences
Recent deep learning algorithms have further improved risk classification capabilities. However, an appropriate feature selection method is required to overcome dimensionality issues in population-based genetic studies. In this Korean case-control st...

Uncovering the complex genetic architecture of human plasma lipidome using machine learning methods.

Scientific reports
Genetic architecture of plasma lipidome provides insights into regulation of lipid metabolism and related diseases. We applied an unsupervised machine learning method, PGMRA, to discover phenotype-genotype many-to-many relations between genotype and ...