Mastermind recognizes variant information provided as cDNA, protein, genomic coordinates, rsID, legacy, and IVS nomenclature. Mastermind uses genomic language processing (GLP) to search the literature for all nomenclatures – standardized or not – and provides a highly sensitive return of references regardless of how individual authors might describe a variant in an article. For data display, variants in the Variants Table are shown as protein changes (ex – p.G1355D) to make it easier to find and interact with relevant articles.

Mastermind also supports copy number variation (CNV) searching by karyotype, array nomenclature, genomic coordinates, and more. The system assumes coordinates are provided in GRCh38, however we accept coordinates in older builds by simply specifying that build (ex – hg18, hg19) at the end of the search.

Deletion events are displayed in the search bar and CNV table as “del” and can be searched as:

  • deletion of __________
  • del __________
  • loss of __________

Amplification events are displayed in the search bar and CNV table as “amp” and can be described as:

  • amplification of __________
  • amp __________
  • duplication of __________
  • dup __________
  • gain of __________

Here are some examples of CNV below:

  • ISCN karyotype – “46,XX,del(5)(q13)” or “dup(1)(p36p11)”
  • Array – “arr[hg19] 7q36.3(158,583,829-159,119,707)x3”
  • Genomic coordinates – “deletion chr11:1918222-1977026 hg18”
  • Cytogenetic band – “del 11q23” or “loss of 11q23”
  • Intragenic CNVs – “dup KMT2A exons 2-6” or “amp KMT2A exons 2-6” or “gain of KMT2A exons 2-6”