Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era

BACKGROUND: Human exome sequencing is a recently developed tool to aid in the discovery of novel coding variants. Now broadly applied, exome sequencing datasets provide a novel opportunity to evaluate the allele frequencies of previously published pathogenic rare variants. METHODS AND RESULTS: We ex...

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Bibliographic Details
Main Authors: Norton, Nadine, Robertson, Peggy D., Rieder, Mark J., Zuchner, Stephan, Rampersaud, Evadnie, Martin, Eden, Li, Duanxiang, Nickerson, Deborah A., Hershberger, Ray E.
Format: Artigo
Language:Inglês
Published: 2012
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3332064/
https://ncbi.nlm.nih.gov/pubmed/22337857
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGENETICS.111.961805
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