AI Medical Compendium Topic

Explore the latest research on artificial intelligence and machine learning in medicine.

Polymorphism, Single Nucleotide

Showing 91 to 100 of 378 articles

Clear Filters

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...

disperseNN2: a neural network for estimating dispersal distance from georeferenced polymorphism data.

BMC bioinformatics
Spatial genetic variation is shaped in part by an organism's dispersal ability. We present a deep learning tool, disperseNN2, for estimating the mean per-generation dispersal distance from georeferenced polymorphism data. Our neural network performs ...

Machine learning-based ensemble approach in prediction of lung cancer predisposition using XRCC1 gene polymorphism.

Journal of biomolecular structure & dynamics
The employment of machine learning approaches has shown promising results in predicting cancer. In the current study, polymorphisms data of five single nucleotide polymorphisms (SNPs) of DNA repair gene XRCC1 (XRCC1 399, XRCC1 194, XRCC1 206, XRCC1 6...

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...

Explainable multi-task learning improves the parallel estimation of polygenic risk scores for many diseases through shared genetic basis.

PLoS computational biology
Many complex diseases share common genetic determinants and are comorbid in a population. We hypothesized that the co-occurrences of diseases and their overlapping genetic etiology can be exploited to simultaneously improve multiple diseases' polygen...

A simulative deep learning model of SNP interactions on chromosome 19 for predicting Alzheimer's disease risk and rates of disease progression.

Alzheimer's & dementia : the journal of the Alzheimer's Association
BACKGROUND: Identifying genetic patterns that contribute to Alzheimer's disease (AD) is important not only for pre-symptomatic risk assessment but also for building personalized therapeutic strategies.

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...

Improving variant calling using population data and deep learning.

BMC bioinformatics
Large-scale population variant data is often used to filter and aid interpretation of variant calls in a single sample. These approaches do not incorporate population information directly into the process of variant calling, and are often limited to ...

Inference of chronic obstructive pulmonary disease with deep learning on raw spirograms identifies new genetic loci and improves risk models.

Nature genetics
Chronic obstructive pulmonary disease (COPD), the third leading cause of death worldwide, is highly heritable. While COPD is clinically defined by applying thresholds to summary measures of lung function, a quantitative liability score has more power...