A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses.

concluded that more clinically complex patients have a nonsignificant trend toward a higher rate of single positive findings. 3 Karaca et al. found that many cases of presumed phenotypic expansion are actually patients with multiple Mendelian conditions. 2 Posey et al. used Human Phenotype Ontology (HPO) terms to determine the degree of phenotypic overlap of individual patients’ dual diagnoses. 4 To our knowledge, however, this study is the first to compare clinical complexity between patients with single and multiple potentially relevant findings.

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