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

A weakly supervised regression approach to directly predict the probability of pathogenicity based on categorized pathogenicity classes

Predicting pathogenic potentials of short DNA reads with reverse-complement deep neural networks.

Collection of 1069 Escherichia coli virulence factors

Deep multiple instance learning model for predicting deletion pathogenicity and gene haploinsufficiency.