| abstract |
The present invention provides methods and a system for conducting genetic analysis for detection of pathogenic variants. Accordingly, in embodiments, the invention provides various methods for performing genetic analysis using a human worm ortholog model, comprising humanizing a worm by integrating a human ortholog into the worm genome. In embodiments, the ortholog is a gene associated with seizure, neuroconduction, movement disorders (e.g. ataxia, dystonia), or muscle disorder in humans. In another embodiment, the invention provides a system for performing the methods of the invention. |