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

TitleClan genomics: From OMIM phenotypic traits to genes and biology.
Publication TypeJournal Article
Year of Publication2021
AuthorsLupski, JR
JournalAm J Med Genet A
Date Published2021 Nov
KeywordsComputational Biology, Databases, Genetic, Genetic Diseases, Inborn, Genetics, Medical, Genomics, Humans, Phenotype

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 practice. The granularity and informative content of a personal genome is immense. Yet, we are limited in our utility of much of that personal genome information by the lack of functional characterization of the overwhelming majority of computationally annotated genes in the haploid human reference genome sequence. Whereas DNA and the genetic code have provided a 'Rosetta Stone' to translate genetic variant information, clinical medicine, and clinical genomics provide the context to understand human biology and disease. A path forward will integrate deep phenotyping, such as available in a clinical synopsis in the Online Mendelian Inheritance in Man (OMIM) entries, with personal genome analyses.

Alternate JournalAm J Med Genet A
PubMed ID34405553
PubMed Central IDPMC8530976
Grant ListUM1 HG006542 / HG / NHGRI NIH HHS / United States
R35 NS105078 / NS / NINDS NIH HHS / United States
R01 GM106373 / GM / NIGMS NIH HHS / United States
U01 HG011758 / HG / NHGRI NIH HHS / United States

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