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Fig. 1 | Genome Medicine

Fig. 1

From: Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory

Fig. 1

Evidence-based workflow for structural and sequence analysis of missense variants. The generic workflow used for analysis of missense variants proceeds through a short series of questions. Following the initial question (“Is there an experimental structure for the human protein or domain?”), the analysis pathway is then determined by the level of evidence available for each variant, and may differ on a case-by-case basis

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