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Genome-Wide Association Study

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scGraph2Vec: a deep generative model for gene embedding augmented by graph neural network and single-cell omics data.

GigaScience
BACKGROUND: Exploring the cellular processes of genes from the aspects of biological networks is of great interest to understanding the properties of complex diseases and biological systems. Biological networks, such as protein-protein interaction ne...

RiceSNP-BST: a deep learning framework for predicting biotic stress-associated SNPs in rice.

Briefings in bioinformatics
Rice consistently faces significant threats from biotic stresses, such as fungi, bacteria, pests, and viruses. Consequently, accurately and rapidly identifying previously unknown single-nucleotide polymorphisms (SNPs) in the rice genome is a critical...

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...

RiceSNP-ABST: a deep learning approach to identify abiotic stress-associated single nucleotide polymorphisms in rice.

Briefings in bioinformatics
Given the adverse effects faced by rice due to abiotic stresses, the precise and rapid identification of single nucleotide polymorphisms (SNPs) associated with abiotic stress traits (ABST-SNPs) in rice is crucial for developing resistant rice varieti...

Digital phenotyping from wearables using AI characterizes psychiatric disorders and identifies genetic associations.

Cell
Psychiatric disorders are influenced by genetic and environmental factors. However, their study is hindered by limitations on precisely characterizing human behavior. New technologies such as wearable sensors show promise in surmounting these limitat...

Rapid and accurate multi-phenotype imputation for millions of individuals.

Nature communications
Deep phenotyping can enhance the power of genetic analysis, including genome-wide association studies (GWAS), but the occurrence of missing phenotypes compromises the potential of such resources. Although many phenotypic imputation methods have been ...

Deep learning and genome-wide association meta-analyses of bone marrow adiposity in the UK Biobank.

Nature communications
Bone marrow adipose tissue is a distinct adipose subtype comprising more than 10% of fat mass in healthy humans. However, the functions and pathophysiological correlates of this tissue are unclear, and its genetic determinants remain unknown. Here, w...

Machine learning derived retinal pigment score from ophthalmic imaging shows ethnicity is not biology.

Nature communications
Few metrics exist to describe phenotypic diversity within ophthalmic imaging datasets, with researchers often using ethnicity as a surrogate marker for biological variability. We derived a continuous, measured metric, the retinal pigment score (RPS),...

Deep learning predicts DNA methylation regulatory variants in specific brain cell types and enhances fine mapping for brain disorders.

Science advances
DNA methylation (DNAm) is essential for brain development and function and potentially mediates the effects of genetic risk variants underlying brain disorders. We present INTERACT, a transformer-based deep learning model to predict regulatory varian...

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...