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What types of variants are included in MyOme's exome and genome analysis?

Currently available:

  • Single Nucleotide Variants (SNVs)
  • Insertions/Deletions (Indels)
  • Copy Number Variants (CNVs)
  • Regions of Homozygosity (ROH)
  • Uniparental Disomy (UPD) (when parental samples provided)
  • SNVs, Indels of Mitochondrial DNA (mtDNA)
  • Select Tandem Repeat Expansions (TREs)