Pigmentation varies widely across humans and is shaped by melanin quantity, type, and spatial distribution. Retinal pigmentation protects against light-induced damage, yet its genetic and evolutionary bases remain unclear. We developed a deep learnin...
Prostate cancer exhibits a strong familial association, and its heritability indicates a significant contribution from germline variants. While genome-wide association studies (GWAS) have identified common germline variants associated with prostate c...
Migraine is a complex neurological disorder with substantial heritability, yet genome-wide association studies (GWAS) have explained only a fraction of its genetic component. We developed InsightGWAS, a Transformer-based model, to enhance genetic dis...
The epidermal growth factor receptor (EGFR) is a key regulator of cell proliferation and a well-established therapeutic target in non-small-cell lung cancer (NSCLC). Somatic mutations in the EGFR gene have been widely studied in the context of tyrosi...
Gene-level rare variant association tests (RVATs) are essential for uncovering disease mechanisms and identifying therapeutic targets. Advances in sequence-based machine learning have generated diverse variant pathogenicity scores, creating opportuni...
Prostate cancer (PrCa) incidence and severity vary across ancestries; men of African ancestry (AA) are more likely to be diagnosed and die from PrCa than those of European ancestry (EA). Current polygenic risk scores, even from multi-ancestry GWAS, d...
This study proposes a novel machine learning (ML)-based stacking technique that integrates Single Nucleotide Polymorphisms (SNPs) and inferred local ancestry (LA) to improve predictive accuracy in clinical outcomes. Asthma, particularly severe asthma...
This study aimed to investigate the relationship between methylation quantitative trait loci (meQTL) and lung adenocarcinoma (LUAD) susceptibility. Candidate SNPs linked to differentially methylated CpG sites in LUAD were identified through meQTL dat...
Preeclampsia, characterized by high blood pressure, proteinuria and organ dysfunction in severe cases is a hypertensive disorder that occurs during pregnancy. There is strong evidence that this disease, whose etiology remains unclear, is a complex co...
Revealing new lncRNA-disease associations (LDAs) is necessary to decipher pathological mechanisms and find new clues of diagnosis and therapy for complex diseases. However, experimental methods for LDA identification need a significant amount of time...
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