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  1. Invitae
  2. Technology and Quality
  3. Reporting and variant interpretation

Articles in this section

  • 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?
  • How does Invitae determine which transcript to use?
  • How do you know which genes cause which diseases?
  • Why do you only need one variant to determine whether a gene causes a specific disease?
  • Can Invitae interpret a variant for me?
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What genome build does Invitae use?

Invitae uses genome assembly GRCh37.

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