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  1. Invitae
  2. Technology and Quality

Technology and Quality

Confirmation and interpretation

  • Does Invitae confirm variants?
  • Which variants get confirmed?
  • How does Invitae confirm SNV and indel variants?
  • How does Invitae confirm copy number variants (CNVs)?
  • How does Invitae classify genetic variants?
  • What are pseudodeficiency alleles?

Reporting and variant interpretation

  • Why are termination codons in the last exon reported as VUS?
  • Do you copy or base your interpretations from ClinVar?
  • How often are deletions/duplications (CNVs) detected in panel testing?
  • Why is this truncation in the second-to-last exon a VUS?
  • How does Invitae find and evaluate literature evidence?
  • Why is "Invitae" cited as a reference in the report?
See all 16 articles

Assay

  • What sequencing methodology is used?
  • Does Invitae offer deletion/duplication analysis?
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