Using Mastermind to automate the design of a pan-hematopoietic malignancy gene panel, Dr. Mark Kiel generated a set of biomarker candidates that includes 314 genes associated with leukemia and 311 genes associated with lymphoma. Each of these candidate biomarker genes were manually annotated based on likely mechanism of pathogenesis including mutation, expression, copy number and structural rearrangement.
Data supporting the prioritization of the genes includes the number of articles that cited the disease-gene association as well as a breakdown of the number of these papers that suggest diagnostic, prognostic and therapeutic significance. The top ranking citations for each are also depicted in the final panel as are hyperlinks into the Mastermind software to permit further examination of this evidence.
The result is a highly comprehensive gene panel of over 300 genes with all associated variants supported by specific literature citations from thousands of research publications that is easily scalable for any disease or gene of interest.
A white paper on the design process for the pan-hematopoietic malignancy gene panel, the gene list and the supporting evidence is publicly available.
Contact us to request a spreadsheet of the supporting evidence including the list of genes and literature citations for each gene.