Clan genomics: From OMIM phenotypic traits to genes and biology.

ABSTRACT: Clinical characterization of a patient phenotype has been the quintessential approach for elucidating a differential diagnosis and a hypothesis to explore a potential clinical diagnosis. This has resulted in a language of medicine and a semantic ontology, with both specialty- and subspecialty-specific lexicons, that can be challenging to translate and interpret. There is no 'Rosetta Stone' of clinical medicine such as the genetic code that can assist translation and interpretation of the language of genetics. Nevertheless, the information content embodied within a clinical diagnosis can guide management, therapeutic intervention, and potentially prognostic outlook of disease enabling anticipatory guidance for patients and families. Clinical genomics is now established firmly in medical pra

SUBMITTER: Lupski JR 

PROVIDER: S-EPMC8530976 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature