Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases

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Figure 2.
Figure 2.

A workflow of utilizing Drosophila models for functional studies of GUS and VUS. An example of decision-making framework for employing Drosophila models in GUS and VUS interpretation. Four different strategies (L: Loss-of-function, H: Humanization, O: Overexpression, F: Fly analogous variant) can be selected depending on the characteristics of candidate genes and alleles. Multiple strategies could be utilized together to further support the findings.

This Article

  1. Published in Advance June 4, 2025, doi: 10.1101/gr.278291.123 Genome Res. 35: 1473-1484

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