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High-frequency low-penetrance copy-number variant classification: should we revise the existing guidelines?

Idit MayaLina Basel-SalmonAmi SingerSagi-Dain Lena
Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
Keyphrases
  • high frequency
  • copy number
  • mitochondrial dna
  • transcranial magnetic stimulation
  • machine learning
  • deep learning
  • genome wide
  • clinical practice
  • dna methylation
  • gene expression