AIMC Topic: Multifactorial Inheritance
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Generative prediction of causal gene sets responsible for complex traits.
Proceedings of the National Academy of Sciences of the United States of America
Jun 12, 2025
The relationship between genotype and phenotype remains an outstanding question for organism-level traits because these traits are generally . The challenge arises from complex traits being determined by a combination of multiple genes (or loci), whi...
Performance of deep-learning-based approaches to improve polygenic scores.
Nature communications
Jun 2, 2025
Polygenic scores, which estimate an individual's genetic propensity for a disease or trait, have the potential to become part of genomic healthcare. Neural-network based deep-learning has emerged as a method of intense interest to model complex, nonl...
Clinical, genetic, and sociodemographic predictors of symptom severity after internet-delivered cognitive behavioural therapy for depression and anxiety.
BMC psychiatry
May 30, 2025
BACKGROUND: Internet-delivered cognitive behavioural therapy (ICBT) is an effective and accessible treatment for mild to moderate depression and anxiety disorders. However, up to 50% of patients do not achieve sufficient symptom relief. Identifying p...
Exploring the application of deep learning methods for polygenic risk score estimation.
Biomedical physics & engineering express
Mar 13, 2025
. 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...
Machine Learning Methods for Classifying Multiple Sclerosis and Alzheimer's Disease Using Genomic Data.
International journal of molecular sciences
Feb 27, 2025
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
Feb 21, 2025
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...
Modeling gene interactions in polygenic prediction via geometric deep learning.
Genome research
Jan 22, 2025
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...
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
Dec 3, 2024
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...
Disentangling the Genetic Landscape of Peripartum Depression: A Multi-Polygenic Machine Learning Approach on an Italian Sample.
Genes
Nov 26, 2024
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...
A deep learning model for prediction of autism status using whole-exome sequencing data.
PLoS computational biology
Nov 8, 2024
Autism is a developmental disability. Research demonstrated that children with autism benefit from early diagnosis and early intervention. Genetic factors are considered major contributors to the development of autism. Machine learning (ML), includin...
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