| Videos | Channels | Search |
Fast and easy identification of disease causing variants in hereditary diseases
In this presentation, we will present our new one-step trio workflow, which automatically checks for all modes of inheritance using optimized parameter settings for the complete data analysis, filtering, and interpretation workflow. We will illustrate this by reporting data from cases with undiagnosed genetic disorders. In combination with our new patient phenotype-driven sorting algorithm, which ranks variants using phenotype-disease associations, this simplifies and accelerates the identification of disease-causing variants.
38:26 minutes
Tags: bxgwb webinar, clc genomics workbench, Clinical, hereditary, hereditary disease solution, solution webinar
Switch to