Article ; Online: Promise and Peril of Population Genomics for the Development of Genome-First Approaches in Mendelian Cardiovascular Disease.
Circulation. Genomic and precision medicine
2021 Volume 14, Issue 1, Page(s) e002964
Abstract: The rich tradition of cardiovascular genomics has placed the field in prime position to extend our knowledge toward a genome-first approach to diagnosis and therapy. Population-scale genomic data has enabled exponential improvements in our ability to ... ...
| Abstract | The rich tradition of cardiovascular genomics has placed the field in prime position to extend our knowledge toward a genome-first approach to diagnosis and therapy. Population-scale genomic data has enabled exponential improvements in our ability to adjudicate variant pathogenicity based on allele rarity, and there has been a significant effort to employ these sizeable data in the investigation of rare disease. Certainly, population genomics data has great potential to aid the development of a genome-first approach to Mendelian cardiovascular disease, but its use in the clinical and investigative decision making is limited by the characteristics of the populations studied, and the evolutionary constraints on human Mendelian variation. To truly empower clinicians and patients, the successful implementation of a genome-first approach to rare cardiovascular disease will require the nuanced incorporation of population-based discovery with detailed investigation of rare disease cohorts and prospective variant evaluation. |
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| MeSH term(s) | Cardiomyopathy, Dilated/diagnosis ; Cardiomyopathy, Dilated/genetics ; Cardiovascular Diseases/diagnosis ; Cardiovascular Diseases/genetics ; Connectin/genetics ; Genetic Variation ; Genetics, Population ; Genomics ; Humans ; Risk |
| Chemical Substances | Connectin ; TTN protein, human |
| Language | English |
| Publishing date | 2021-02-01 |
| Publishing country | United States |
| Document type | Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review |
| ISSN | 2574-8300 |
| ISSN (online) | 2574-8300 |
| DOI | 10.1161/CIRCGEN.120.002964 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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