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Multifactorial Inheritance

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Disentangling the Genetic Landscape of Peripartum Depression: A Multi-Polygenic Machine Learning Approach on an Italian Sample.

Genes
BACKGROUND: The genetic determinants of peripartum depression (PPD) are not fully understood. Using a multi-polygenic score approach, we characterized the relationship between genome-wide information and the history of PPD in patients with mood disor...

Explainable machine learning identifies a polygenic risk score as a key predictor of pancreatic cancer risk in the UK Biobank.

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
BACKGROUND: Predicting the risk of developing pancreatic ductal adenocarcinoma (PDAC) is of paramount importance, given its high mortality rate. Current PDAC risk prediction models rely on a limited number of variables, do not include genetics, and h...

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...

[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).

Modeling gene interactions in polygenic prediction via geometric deep learning.

Genome research
Polygenic risk score (PRS) is a widely used approach for predicting individuals' genetic risk of complex diseases, playing a pivotal role in advancing precision medicine. Traditional PRS methods, predominantly following a linear structure, often fall...

Machine Learning Methods for Classifying Multiple Sclerosis and Alzheimer's Disease Using Genomic Data.

International journal of molecular sciences
Complex diseases pose challenges in prediction due to their multifactorial and polygenic nature. This study employed machine learning (ML) to analyze genomic data from the UK Biobank, aiming to predict the genomic predisposition to complex diseases l...

Genetic association studies using disease liabilities from deep neural networks.

American journal of human genetics
The case-control study is a widely used method for investigating the genetic underpinnings of binary traits. However, long-term, prospective cohort studies often grapple with absent or evolving health-related outcomes. Here, we propose two methods, l...

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...

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...

Exploring the application of deep learning methods for polygenic risk score estimation.

Biomedical physics & engineering express
. Polygenic risk scores (PRS) summarise genetic information into a single number with clinical and research uses. Deep learning (DL) has revolutionised multiple fields, however, the impact of DL on PRSs has been less significant. We explore how DL ca...