Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Editorial
. 2023 Nov;20(11):1522-1524.
doi: 10.1016/j.hrthm.2023.08.030. Epub 2023 Aug 24.

From founder to function: Can we unravel phenotype from genotype?

Chad S Weldy  1 , Marco V Perez  2
Affiliations
Editorial

From founder to function: Can we unravel phenotype from genotype?

Chad S Weldy et al. Heart Rhythm. 2023 Nov.
No abstract available

PubMed Disclaimer

Conflict of interest statement

Disclosures: Dr Perez has served as a consultant for Thryv, Inc. Dr Weldy has no conflicts to disclose.

Comment on

References

    1. Consortium I. The impact of genomic variation on function (IGVF) consortium. ArXiv 2023; 10.48550/arXiv.2307.13708. arXiv:2307.13708. - DOI
    1. Hoorntje ET, Burns C, Marsili L, et al. Variant location is a novel risk factor for individuals with arrhythmogenic cardiomyopathy due to a desmoplakin (DSP) truncating variant. Circ Genom Precis Med 2023;16:e003672. - PMC - PubMed
    1. Dries AM, Kirillova A, Reuter CM, et al. The genetic architecture of Plakophilin 2 cardiomyopathy. Genet Med 2021;23:1961–1968. - PMC - PubMed
    1. Wu Y, Weile J, Cote AG, et al. A web application and service for imputing and visualizing missense variant effect maps. Bioinformatics 2019;35:3191–3193. - PMC - PubMed
    1. Weile J, Sun S, Cote AG, et al. A framework for exhaustively mapping functional missense variants. Mol Syst Biol 2017;13:957. - PMC - PubMed