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.
authors: Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL; Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL.
authors: Elizabeth M
authors: EM
authors: McNally
authors: Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL; Center for Pharmacogenomics, Northwestern University Feinberg School of Medicine, Chicago, IL. Electronic address: al.george@northwestern.edu.
authors: Alfred L
authors: AL
authors: George
mesh_terms: D000818:Animals; D002318:Cardiovascular Diseases / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D005787:Gene Frequency; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D023281:Genomics / Q000379:methods; D040941:Heredity; D006801:Humans; D010375:Pedigree; D010641:Phenotype; D011379:Prognosis; D012307:Risk Factors
chemical_list: D005819:Genetic Markers