AIMC Topic: Genetic Predisposition to Disease

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Predicting breast cancer risk using interacting genetic and demographic factors and machine learning.

Scientific reports
Breast cancer (BC) is a multifactorial disease and the most common cancer in women worldwide. We describe a machine learning approach to identify a combination of interacting genetic variants (SNPs) and demographic risk factors for BC, especially fac...

A Knowledge-Based Machine Learning Approach to Gene Prioritisation in Amyotrophic Lateral Sclerosis.

Genes
Amyotrophic lateral sclerosis is a neurodegenerative disease of the upper and lower motor neurons resulting in death from neuromuscular respiratory failure, typically within two to five years of first symptoms. Several rare disruptive gene variants h...

A novel graph attention adversarial network for predicting disease-related associations.

Methods (San Diego, Calif.)
Identifying complex human diseases at molecular level is very helpful, especially in diseases diagnosis, therapy, prognosis and monitoring. Accumulating evidences demonstrated that RNAs are playing important roles in identifying various complex human...

PopPhy-CNN: A Phylogenetic Tree Embedded Architecture for Convolutional Neural Networks to Predict Host Phenotype From Metagenomic Data.

IEEE journal of biomedical and health informatics
Accurate prediction of the host phenotype from a metagenomic sample and identification of the associated microbial markers are important in understanding potential host-microbiome interactions related to disease initiation and progression. We introdu...

SDLDA: lncRNA-disease association prediction based on singular value decomposition and deep learning.

Methods (San Diego, Calif.)
In recent years, accumulating studies have shown that long non-coding RNAs (lncRNAs) not only play an important role in the regulation of various biological processes but also are the foundation for understanding mechanisms of human diseases. Due to ...

Dimensionality reduction reveals fine-scale structure in the Japanese population with consequences for polygenic risk prediction.

Nature communications
The diversity in our genome is crucial to understanding the demographic history of worldwide populations. However, we have yet to know whether subtle genetic differences within a population can be disentangled, or whether they have an impact on compl...

Harnessing Population Pedigree Data and Machine Learning Methods to Identify Patterns of Familial Bladder Cancer Risk.

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
BACKGROUND: Relatives of patients with bladder cancer have been shown to be at increased risk for kidney, lung, thyroid, and cervical cancer after correcting for smoking-related behaviors that may concentrate in some families. We demonstrate a novel ...

Deep learning models predict regulatory variants in pancreatic islets and refine type 2 diabetes association signals.

eLife
Genome-wide association analyses have uncovered multiple genomic regions associated with T2D, but identification of the causal variants at these remains a challenge. There is growing interest in the potential of deep learning models - which predict e...