Web seminar recordings

Fast and easy identification of disease causing variants in hereditary diseases

1,570 views
November 10, 2016
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.

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