Characterization of Germline variants
ClassifyCNV: a tool for clinical annotation of copy-number variants
Cancer Predisposition Sequencing Reporter (CPSR)
POSTRE: Prediction Of STRuctural variant Effects
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.
TAD-aware annotation of CNVs
Predicting pathogenic potentials of short DNA reads with reverse-complement deep neural networks.
A weakly supervised regression approach to directly predict the probability of pathogenicity based on categorized pathogenicity classes
Collection of 1069 Escherichia coli virulence factors
Deep multiple instance learning model for predicting deletion pathogenicity and gene haploinsufficiency.
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