Tutorial
For over a decade, it has been known that a subset of individuals with a genetic (Mendelian) disease have more than one such disease (Posey et al., 2017). This situation has been referred to in the literature as blended phenotype, dual (or multiple) genetic diagnosis, Multilocus Genomic Variation, composite phenotype, co-occurrence of diseases, comorbidity, and others. For conciseness, we will use the acronym MGD (multiple genetic diagnosis).
Phenoblend is a desktop application designed to visualize the phenotypic profile observed in individuals with MGD. See the Documentation for information on installing and using Phenoblend.
Using Phenoblend
Phenoblend is a desktop application that can be run on Mac, Windows, or several types of linux. Users need to load the required data and then can visualize the phenotypic profiles.