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Fig. 1 | Genome Medicine

Fig. 1

From: Evaluating the use of paralogous protein domains to increase data availability for missense variant classification

Fig. 1

Outline of the use of meta-domain data in two variant assessment criteria (PM5 and PP2). Seven different proteins are depicted that share a common protein domain (in red). The occurrence of clinically annotated variants at a meta-position is applied under PM5, and the genetic constraint across a meta-domain is applied in PP2. The analysis also includes the use of these approaches to support the benignity of the variant (grey dotted boxes), which is not implemented in the current guidelines

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Genome Medicine

ISSN: 1756-994X

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