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. Author manuscript; available in PMC: 2023 Feb 24.
Published in final edited form as: Trends Genet. 2022 Aug 4;38(12):1271–1283. doi: 10.1016/j.tig.2022.07.002

Figure 1. Flow chart of the literature search and filtering criteria used to select the final phenotype-aware variant prioritisation (VP) software tool candidates for benchmarking on real patient data.

Figure 1.

Searches of combinations of keywords (red box) were conducted in PubMed. Phenotype-aware VP software tool candidates found in the resulting papers (37) were then narrowed down to seven final candidates based on five criteria: accepting variant call format (VCF) files; accepting Human Phenotype Ontology (HPO) terms; last updated or published since 2018; freely available; with local, programmatic access. Finally, four VP tools were successfully downloaded, installed, and run on real patient data for testing and comparison.