The Achilles' heel of cardiovascular genetic testing: distinguishing pathogenic mutations from background genetic noise.
Journal Article (Journal Article)
Although the etiologies of sudden cardiac death (SCD) are diverse, genetic mutations associated with cardiomyopathic and channelopathic diseases are major causes, and clinically available genetic tests offer the potential to identify at-risk family members, contribute to risk stratification, and guide therapeutic intervention. Recently, the first large-scale systematic studies exploring the background genetic "noise" rate of these tests have been conducted and offer guidance in interpreting positive genetic test results.
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Duke Authors
Cited Authors
- Landstrom, AP; Ackerman, MJ
Published Date
- October 2011
Published In
Volume / Issue
- 90 / 4
Start / End Page
- 496 - 499
PubMed ID
- 21934721
Pubmed Central ID
- PMC3495562
Electronic International Standard Serial Number (EISSN)
- 1532-6535
Digital Object Identifier (DOI)
- 10.1038/clpt.2011.192
Language
- eng
Conference Location
- United States