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. Author manuscript; available in PMC: 2021 Dec 10.
Published in final edited form as: Genet Med. 2021 Jun 10;23(10):1998–2002. doi: 10.1038/s41436-021-01219-5

FIGURE 2:

FIGURE 2:

Following the categorization of the HPO terms, a second Exomiser run re-prioritizes variants, genes and associated diseases. The clinician is presented with a shortlist of genes, ranked by the Exomiser combined_score which is shown, as well as the change in score (green positive, red negative) resulting from the HPO term categorization. We list the disease and a link that allows the clinician to explore whether a disease description resembles their patient, allowing them to flag one or more as being candidates for causing the patient’s presentation. Free text can be used in the ‘Add comment’ box, finalizing the process by clicking ‘Confirm analysis’ to return the information to the diagnostic laboratory.