Article

Development of self-phenotyping tools to empower patients and improve diagnostics

2024-06-14

Abstract excerpt

<h4>ABSTRACT</h4> Deep phenotyping is important for improving diagnostics and rare diseases research and is especially effective when standardized using Human Phenotype Ontology (HPO). Patients are an under-utilized source of information, so to facilitate self-phenotyping we previously “translated” HPO into plain language (“layperson HPO”). Another self-phenotyping survey, GenomeConnect, asks patient-friendly ques...

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Literature Corpus work: e3971d3a-f3f5-56d6-bec9-4b8b21e0d2cb
DOI: 10.1101/2024.06.13.24308791

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