New approaches to establish genetic causality

Elizabeth M. McNally, Alfred L. George*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

11 Scopus citations


Cardiovascular medicine has evolved rapidly in the era of genomics with many diseases having primary genetic origins becoming the subject of intense investigation. The resulting avalanche of information on the molecular causes of these disorders has prompted a revolution in our understanding of disease mechanisms and provided new avenues for diagnoses. At the heart of this revolution is the need to correctly classify genetic variants discovered during the course of research or reported from clinical genetic testing. This review will address current concepts related to establishing the cause and effect relationship between genomic variants and heart diseases. A survey of general approaches used for functional annotation of variants will also be presented.

Original languageEnglish (US)
Pages (from-to)646-652
Number of pages7
JournalTrends in Cardiovascular Medicine
Issue number7
StatePublished - Oct 1 2015

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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