New approaches to establish genetic causality

Elizabeth M. McNally; Alfred L. George

doi:10.1016/j.tcm.2015.02.013

New approaches to establish genetic causality

Elizabeth M. McNally, Alfred L. George^*

^*Corresponding author for this work

Research output: Contribution to journal › Review article › peer-review

12 Scopus citations

Abstract

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 language	English (US)
Pages (from-to)	646-652
Number of pages	7
Journal	Trends in Cardiovascular Medicine
Volume	25
Issue number	7
DOIs	https://doi.org/10.1016/j.tcm.2015.02.013
State	Published - Oct 1 2015

ASJC Scopus subject areas

Cardiology and Cardiovascular Medicine

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10.1016/j.tcm.2015.02.013

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title = "New approaches to establish genetic causality",

abstract = "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.",

author = "McNally, {Elizabeth M.} and George, {Alfred L.}",

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year = "2015",

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AU - George, Alfred L.

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N2 - 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.

AB - 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.

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New approaches to establish genetic causality

Abstract

ASJC Scopus subject areas

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