PhenoSV: Interpretable phenotype-aware model for the prioritization of genes affected by structural variants.
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Updated
Apr 19, 2024 - Python
PhenoSV: Interpretable phenotype-aware model for the prioritization of genes affected by structural variants.
MetaDome is aimed at professionals in the (bio-)medical field of human genetics who wish to visualize the position of their mutation of interest in the context of general population-based genetic variation and provide detailed information of pathogenic variants found across homologous domain positions.
hReg-CNCC is a high-quality Regulatory network of Cranial Neural Crest Cell (CNCC), built by consensus optimization.
A Python implementation of the Minimum Variant Level Data standard
Aid for explanation of genetic variants in human
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