AIMC Topic: Multifactorial Inheritance

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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...

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...

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...

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...

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...

A deep learning model for prediction of autism status using whole-exome sequencing data.

PLoS computational biology
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...

Disease prediction with multi-omics and biomarkers empowers case-control genetic discoveries in the UK Biobank.

Nature genetics
The emergence of biobank-level datasets offers new opportunities to discover novel biomarkers and develop predictive algorithms for human disease. Here, we present an ensemble machine-learning framework (machine learning with phenotype associations, ...

Machine learning models for predicting blood pressure phenotypes by combining multiple polygenic risk scores.

Scientific reports
We construct non-linear machine learning (ML) prediction models for systolic and diastolic blood pressure (SBP, DBP) using demographic and clinical variables and polygenic risk scores (PRSs). We developed a two-model ensemble, consisting of a baselin...

AI-enhanced integration of genetic and medical imaging data for risk assessment of Type 2 diabetes.

Nature communications
Type 2 diabetes (T2D) presents a formidable global health challenge, highlighted by its escalating prevalence, underscoring the critical need for precision health strategies and early detection initiatives. Leveraging artificial intelligence, particu...