How can GestaltMatcher support the re-classification of VUS?

GestaltMatcher AI supports the re-classification of variants of uncertain significance (VUS) by adding standardized phenotypic evidence under the PP4 criterion of the ACMG guidelines. The GestaltScore, derived from the image analysis with GestaltMatcher AI, helps determine whether a patient’s phenotype is highly specific for a given genetic disorder.

For variant prioritization, our PEDIA approach (Prioritization of Exome Data by Image Analysis) combines scores from genotype- and/or phenotype-based prioritization tools with the GestaltScore. In the TRANSLATE NAMSE study, our PEDIA approach ranked the correct disease-associated gene among the top-10 suggestions in 82% of cases. GestaltScores also improved the accuracy of other prioritization tools, including Exomiser, Xrare, LIRICAL or Amelie, by up to 30%.

GestaltMatcher can be integrated into existing variant interpretation pipelines via an API, allowing labs to scale and standardize their evaluation without disrupting current workflows.

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