ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
The role of phenotype-based search approaches using public online databases in diagnostics of Mendelian disorders.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 6 citations in OpenAlex.
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- Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management.Genetics in medicine open · 2023Article
- PhenoApt leverages clinical expertise to prioritize candidate genes via machine learning.American journal of human genetics · 2022Article
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Authors and funding
10 authors at 3 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
purposeTo investigate the effectiveness of phenotype-based search approaches using publicly available online databases.
methodsWe included consecutively solved cases from our exome database. For each case, the combination of Human Phenotype Ontology terms reported by the referring clinician was used to perform a search in three commonly used databases: OMIM (first 300 results), Phenolyzer (first 300 results), and Mendelian (all 100 results).
resultsOne hundred cases were included (43 females; mean age: 10 years). The actual molecular diagnosis identified through exome sequencing was not included in the search results of any of the queried databases in 33% of cases. In 85% of cases it was not found within the top five search results. When included, its median rank was 61 (range: 1-295), 21 (1-270), and 29 (1-92) in OMIM, Phenolyzer and Mendelian, respectively.
conclusionThis study demonstrates that, in most cases, phenotype-based search approaches using public online databases is ineffective in providing a probable diagnosis for Mendelian conditions. Genotype-first approach through molecular-guided diagnostics with backward phenotyping may be a more appropriate approach for these disorders, unless a specific diagnosis is considered a priori based on highly unique phenotypic features or a specific facial gestalt.
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