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Fig. 2 | Genome Medicine

Fig. 2

From: Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Fig. 2

Decision tree for the evaluation of functional data for clinical variant interpretation. The SVI Working Group recommends that evaluators use a four-step process to determine the applicability and strength of evidence of functional assays for use in clinical variant interpretation (evidence codes PS3/BS3): (1) define the disease mechanism, (2) evaluate the applicability of general classes of assay used in the field, (3) evaluate the validity of specific instances of assays, and (4) apply evidence to individual variant interpretation

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Genome Medicine

ISSN: 1756-994X

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