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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 understandin... Full description

Journal Title: Trends in cardiovascular medicine 2015, Vol.25 (7), p.646-652
Main Author: McNally, Elizabeth M., MD, PhD
Other Authors: George, Alfred L., MD
Format: Electronic Article Electronic Article
Language: English
Subjects:
Quelle: Alma/SFX Local Collection
Publisher: United States: Elsevier Inc
ID: ISSN: 1050-1738
Link: https://www.ncbi.nlm.nih.gov/pubmed/25864169
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title: New approaches to establish genetic causality
format: Article
creator:
  • McNally, Elizabeth M., MD, PhD
  • George, Alfred L., MD
subjects:
  • Animals
  • Article
  • Cardiomyocytes
  • Cardiomyopathy
  • Cardiovascular
  • Cardiovascular disease
  • Cardiovascular Diseases - diagnosis
  • Cardiovascular Diseases - genetics
  • Cardiovascular Diseases - therapy
  • Clinical medicine
  • Coronary artery disease
  • Gene Frequency
  • genes
  • Genetic Markers
  • Genetic Predisposition to Disease
  • Genetic research
  • Genetic screening
  • genetic testing
  • Genetic variance
  • Genetic Variation
  • Genomes
  • Genomics
  • Genomics - methods
  • Genotype & phenotype
  • Heart
  • Heart diseases
  • Heredity
  • Humans
  • Hypotheses
  • Medical colleges
  • Mutation
  • Pedigree
  • Pharmacogenetics
  • Phenotype
  • polymorphism
  • Prognosis
  • Risk Factors
  • Stem cells
  • Testing laboratories
ispartof: Trends in cardiovascular medicine, 2015, Vol.25 (7), p.646-652
description: 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.
language: eng
source: Alma/SFX Local Collection
identifier: ISSN: 1050-1738
fulltext: fulltext
issn:
  • 1050-1738
  • 1873-2615
url: Link


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descriptionAbstract 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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subjectAnimals ; Article ; Cardiomyocytes ; Cardiomyopathy ; Cardiovascular ; Cardiovascular disease ; Cardiovascular Diseases - diagnosis ; Cardiovascular Diseases - genetics ; Cardiovascular Diseases - therapy ; Clinical medicine ; Coronary artery disease ; Gene Frequency ; genes ; Genetic Markers ; Genetic Predisposition to Disease ; Genetic research ; Genetic screening ; genetic testing ; Genetic variance ; Genetic Variation ; Genomes ; Genomics ; Genomics - methods ; Genotype & phenotype ; Heart ; Heart diseases ; Heredity ; Humans ; Hypotheses ; Medical colleges ; Mutation ; Pedigree ; Pharmacogenetics ; Phenotype ; polymorphism ; Prognosis ; Risk Factors ; Stem cells ; Testing laboratories
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abstractAbstract 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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