How should I cite Mastermind in my paper?
When referring to the use of Mastermind within a sentence, please use the following text: “Mastermind Genomic Search Engine (https://www.genomenon.com/mastermind)”
Where does your population data come from?
Population data for curated variants is based on data from gnomAD v2.1.1.
Does Mastermind have curated content for every variant for a curated gene?
Curated content is available for published variants in the canonical transcript of a curated gene. For variants that are unpublished or for which the published information provides no useful information for classification, curated content may not be available.
Which variants have curated content?
Currently, Disease-Specific Curated Content is available for over 230 unique disorders in Mastermind Professional Edition. A small subset of the curated content is available in Mastermind Basic Edition.
How do I access curated content?
For variants with curated content, this content can be accessed by searching for a gene and variant. A provisional classification will be displayed for the variant on the Evidence page, and the curated content is available on the Interpretation page be viewed by clicking “View Interpretation.”
What part of the content is curated by humans?
Before curated content becomes available in Mastermind, clinical genomic scientists review each article for evidence, ensure that the variant nomenclature is accurate and based on the canonical transcript, and apply ACMG interpretation criteria to the summarized evidence. The curated data then undergoes an extensive secondary QA review process before it is added to the Mastermind …