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Genotype

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Deep learning-based phenotype imputation on population-scale biobank data increases genetic discoveries.

Nature genetics
Biobanks that collect deep phenotypic and genomic data across many individuals have emerged as a key resource in human genetics. However, phenotypes in biobanks are often missing across many individuals, limiting their utility. We propose AutoComplet...

A multi-task deep learning model for EGFR genotyping prediction and GTV segmentation of brain metastasis.

Journal of translational medicine
BACKGROUND: The precise prediction of epidermal growth factor receptor (EGFR) mutation status and gross tumor volume (GTV) segmentation are crucial goals in computer-aided lung adenocarcinoma brain metastasis diagnosis. However, these two tasks prese...

DeepGAMI: deep biologically guided auxiliary learning for multimodal integration and imputation to improve genotype-phenotype prediction.

Genome medicine
BACKGROUND: Genotypes are strongly associated with disease phenotypes, particularly in brain disorders. However, the molecular and cellular mechanisms behind this association remain elusive. With emerging multimodal data for these mechanisms, machine...

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 ...