A genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypes

PURPOSE: “Genome-first” approaches, in which genetic sequencing is agnostically linked to associated phenotypes, can enhance our understanding of rare variants’ contributions to disease. Loss-of-function variants in LMNA cause a range of rare diseases, including cardiomyopathy. METHODS: We leveraged...

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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: Park, Joseph, Levin, Michael G., Haggerty, Christopher M., Hartzel, Dustin N., Judy, Renae, Kember, Rachel L., Reza, Nosheen, Ritchie, Marylyn D., Owens, Anjali T., Damrauer, Scott M., Rader, Daniel J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7719049/
https://ncbi.nlm.nih.gov/pubmed/31383942
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-019-0625-8
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