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Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death.

Emma S SingerSamantha B RossJon R SkinnerRobert G WeintraubJodie InglesChristopher SemsarianRichard Douglas Bagnall
Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
CNVs infrequently cause inherited heart diseases and should be investigated when standard genetic testing does not reveal a genetic diagnosis.
Keyphrases
  • copy number
  • genome wide
  • mitochondrial dna
  • dna methylation
  • pulmonary hypertension
  • heart failure
  • atomic force microscopy
  • single cell
  • atrial fibrillation
  • gene expression
  • high resolution