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Pathogenicity Assignment of Variants in Genes Associated With Cardiac Channelopathies Evolve Toward Diagnostic Uncertainty.

Michael B RosamiliaIsa M LuAndrew P Landstrom
Published in: Circulation. Genomic and precision medicine (2022)
Over the past 10 years, 8.4% of variants in channelopathy-associated genes have changed pathogenicity status with a decline in overall diagnostic certainty. Ongoing clinical and genetic variant follow-up is needed to account for presence of clinically meaningful change in variant pathogenicity assignment over time.
Keyphrases
  • copy number
  • biofilm formation
  • genome wide
  • left ventricular
  • dna methylation
  • staphylococcus aureus
  • escherichia coli
  • gene expression
  • transcription factor
  • genome wide identification