Characterization of Germline variants
Cancer Predisposition Sequencing Reporter (CPSR)
POSTRE: Prediction Of STRuctural variant Effects
pathoscore evaluates variant pathogenicity tools and scores.
Callable Cancer Loci - assessment of sequencing coverage for actionable and pathogenic loci in cancer
MetaDome is aimed at professionals in the (bio-)medical field of human genetics who wish to visualize the position of their variant of interest in the context of general population-based genetic variation, and provides detailed information on pathogenic variants found across homologous protein domain positions, for GRCh37 and GRCh38.
Identification of cancer-causing variants
PRESR is a predictor of pathogenicity of MUNC18-1 variants
Easy to use web interface for biologists to look for genetic variants and understand their deleteriousness using DITTO scores.
Code associated with the article entitled "Pathogenic variants in actionable MODY genes associate with type 2 diabetes"
An explainable missense variant effect predictor based on functional protein modeling for transparent interpretation
Web tool for identifying and generating pathogenic protein variant sequences from canonical FASTA files, utilizing the UniProt API.
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