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Genome Interpretation Panel

The Genome Interpretation Panel features a list of clinically relevant alterations, including many structural and copy number variants.

Users can navigate to a candidate gene or region for further analysis—for example, to evaluate the pathogenicity of structural variants by examining whether a mutation is biallelic.

Such distinctions are only apparent when considering different types of variants together and have been shown to predict response to therapy.

Chromoscope also facilitates the interpretation of amplicons and their architecture, differentiating between amplification mechanisms that can predict evolution and therapy resistance.

Screenshots​

Genome Interpretation Panel Screenshot When clicking on a point mutation in the panel, the varian is highlighted within the visualization Interactive highlighting is also available for structural variants

Examples of cohorts with Genome Interpretation Panel Populated​

Demonstration Video​

A demonstration video showing interactions with variants in the Genome Interpretation Panel is available here:

Configuration​

The data for the Genome Interpretation Panel can be recorded as additional features of the configuration file.

Details on how to include these data for display in the panel are provided in the configuration documentation.