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Systematic reanalysis of copy number losses of uncertain clinical significance.

George Joseph BurghelJamie M EllingfordRonnie WrightLauren BradfordJake MillerChristopher WattJonathan EdgerleyFarah NaeemSiddharth Banka
Published in: Journal of medical genetics (2024)
Reanalysis of clinical aCGH data increases diagnostic yield.
Keyphrases
  • copy number
  • mitochondrial dna
  • genome wide
  • dna methylation
  • electronic health record
  • big data
  • gene expression
  • machine learning
  • artificial intelligence