We built a model to evaluate the effects of human synonymous variants, and we used this model to precompute all possible human synonymous variants. All these predictions are stored in a SQL database c

NIAID Data Ecosystem30

Supporting data for "Cell type-specific interpretation of noncoding variants using deep learning-based methods"

变异功能预测

细胞类型特异性

Interpretation of non-coding genomic variants is one of the most important challenges in human genetics. Machine learning methods have emerged recently as a powerful tool to solve this problem. State-

DataCite Commons2025-05-26 更新100

Computational refinement identifies functional destructive single nucleotide polymorphisms associated with human retinoid X receptor gene

变异功能预测

神经退行性疾病遗传

Alterations in the nuclear retinoid X receptor (RXRs) signalling have been implicated in neurodegenerative disorders such as Alzheimer’s disease, Parkinson’s disease, stroke, multiple sclerosis and gl

NIAID Data Ecosystem30

Somatic missense TP53 VUS - 2

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