AIMC Topic: Multifactorial Inheritance

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MUTATE: a human genetic atlas of multiorgan artificial intelligence endophenotypes using genome-wide association summary statistics.

Briefings in bioinformatics
Artificial intelligence (AI) has been increasingly integrated into imaging genetics to provide intermediate phenotypes (i.e. endophenotypes) that bridge the genetics and clinical manifestations of human disease. However, the genetic architecture of t...

PNL: a software to build polygenic risk scores using a super learner approach based on PairNet, a Convolutional Neural Network.

Bioinformatics (Oxford, England)
SUMMARY: Polygenic risk scores (PRSs) hold promise for early disease diagnosis and personalized treatment, but their overall discriminative power remains limited for many diseases in the general population. As a result, numerous novel PRS modeling te...

[From AI to polygenic risk scores: which innovations will shape the future of psychiatry?].

Tijdschrift voor psychiatrie
BACKGROUND: In recent years, developments have been made in various research domains, from treatments with (es)ketamine to large-scale genome-wide association studies (GWAS).

Deep learning insights into distinct patterns of polygenic adaptation across human populations.

Nucleic acids research
Response to spatiotemporal variation in selection gradients resulted in signatures of polygenic adaptation in human genomes. We introduce RAISING, a two-stage deep learning framework that optimizes neural network architecture through hyperparameter t...

Prediction of incident atrial fibrillation using deep learning, clinical models, and polygenic scores.

European heart journal
BACKGROUND AND AIMS: Deep learning applied to electrocardiograms (ECG-AI) is an emerging approach for predicting atrial fibrillation or flutter (AF). This study introduces an ECG-AI model developed and tested at a tertiary cardiac centre, comparing i...

Innovative approaches to atrial fibrillation prediction: should polygenic scores and machine learning be implemented in clinical practice?

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology
Atrial fibrillation (AF) prediction and screening are of important clinical interest because of the potential to prevent serious adverse events. Devices capable of detecting short episodes of arrhythmia are now widely available. Although it has recen...

Epistatic Features and Machine Learning Improve Alzheimer's Disease Risk Prediction Over Polygenic Risk Scores.

Journal of Alzheimer's disease : JAD
BACKGROUND: Polygenic risk scores (PRS) are linear combinations of genetic markers weighted by effect size that are commonly used to predict disease risk. For complex heritable diseases such as late-onset Alzheimer's disease (LOAD), PRS models fail t...

Inference of Coalescence Times and Variant Ages Using Convolutional Neural Networks.

Molecular biology and evolution
Accurate inference of the time to the most recent common ancestor (TMRCA) between pairs of individuals and of the age of genomic variants is key in several population genetic analyses. We developed a likelihood-free approach, called CoalNN, which use...

Yield prediction through integration of genetic, environment, and management data through deep learning.

G3 (Bethesda, Md.)
Accurate prediction of the phenotypic outcomes produced by different combinations of genotypes, environments, and management interventions remains a key goal in biology with direct applications to agriculture, research, and conservation. The past dec...

A comprehensive investigation of statistical and machine learning approaches for predicting complex human diseases on genomic variants.

Briefings in bioinformatics
Quantifying an individual's risk for common diseases is an important goal of precision health. The polygenic risk score (PRS), which aggregates multiple risk alleles of candidate diseases, has emerged as a standard approach for identifying high-risk ...