This major update to the Mastermind Genomic Search Engine provides a new interface to find, connect, explore, and understand the links between genomic concepts of interest.

What are Genomic Associations?

Powered by Genomic Language Processing (GLP), Mastermind identifies every genomic association supported by the medical evidence, drawing informative connections between genes, variants, CNVs, diseases, phenotypes, therapies, and categorical keywords to inform both clinical care and drug discovery. By allowing users to find, connect, explore, and understand the links between genomic concepts of interest, Mastermind elevates the efficiency and accuracy of the clinical decision-making process.

In summary, the Mastermind Genomic Search Engine…

IDENTIFIES every reference in every article in every way that an author could describe it,
ANALYZES the genomic associations between each concept, and
PRESENTS the data in an easily understandable interface.

Although this technology in Mastermind is powerful, researchers may struggle to identify a specific starting point for their investigation.

In response to this, we have released the Genomic Associations interface for Mastermind Professional Edition. This new capability super-charges genetic variant interpretation with an interactive experience that allows users to explore all the associations that may otherwise be missed or unrecognized. It’s this kind of capability that could uncover key data that will lead to a research discovery or solving a clinical case.

How to Use the Genomic Associations Interface

Whether you are exploring new hypotheses or identifying specific literature on genomically-targeted therapies, Mastermind’s Genomic Associations interface allows your search to begin from any point, and continually evolve with your criteria. With it, you can…

  1. Add or remove search criteria in the top search bar, or by clicking “+ Add to search” on the right side of the screen
  2. Toggle between association tabs to review information on associated genes, variants, diseases, phenotypes, therapies, and CNVs
  3. Click on the list headings to sort lists by quantity and association
  4. Click “View Evidence” to view the results in the Mastermind dashboard

Genomic Associations Use Cases

Here are some examples to illustrate how the Associations interface can be used for a variety of use cases.

CASE #1: Which genes are associated with a phenotype?

Some research projects begin with a broad question that steadily becomes more developed with time. For example, users may want to see a list of all genes associated with a particular phenotype. Consider a pediatric care team interested in genes associated with craniosynostosis, a condition causing skull deformity in infants due to premature fusion of the cranial sutures.

Therefore, “craniosynostosis” can be entered as a phenotype into the Mastermind interface. The resulting output is a list of all genes within the medical evidence (in the red box below) that have been found in literature containing the phenotypic keyword craniosynostosis.

Explore further by selecting other associations, or click “View Evidence” to see the results in the Mastermind Dashboard.

CASE #2: What is the impact of a specific therapy in a patient with a disease caused by mutations in a particular gene?

To mitigate patient safety risks, clinicians must keep pace with new and existing drug interactions with many disease states and conditions. This is especially true within the realm of clinical oncology.

With peripheral neuropathy as a common side effect, the chemotherapy drug vincristine shouldn’t be used in individuals with Charcot-Marie-Tooth (CMT) disease, a hereditary condition caused by a mutation in the gene PMP22. Therefore, an oncologist planning to treat non-Hodgkin’s lymphoma with vincristine can use Mastermind to generate and explore a segmented collection of literature covering vincristine therapy as it relates to CMT, PMP22, and other relevant associations (in the red box below). This, in conjunction with genetic counseling, adds a comforting layer of certainty for the physician and patient, knowing that they have reviewed the most complete information available on a topic.

Click “View Evidence” to see the results in the Mastermind Dashboard.

CASE #3: Which therapies would be most relevant for a patient with a disease, a specific phenotype, and a specific gene mutation?

If treatment is an unknown variable, Mastermind’s advanced association filters make it possible to explore therapeutic innovation with precision – right down to a specific gene variant. Consider a patient with arrhythmogenic right ventricular dysplasia (ARVD) resulting from a mutation, p.V30M, in the gene that encodes desmoplakin (DSP), a protein involved in the structure and function of cardiac cells.

Once entered into the search bar, these variables are used by Mastermind to deliver a relevant, concise literature output (in the red box below) akin to a customized research portfolio – the contents of which can be used to highlight progress in cardiac treatment development for disease state phenotypes related to DSP p.V30M.

Select a therapy of interest and click “View Evidence” to see the results in the Mastermind Dashboard.

The Genomic Associations interface is a major milestone in the continuous improvement of Mastermind, and we welcome your thoughts at

See the new interface for yourself. Log into your Mastermind Professional Edition account or Sign up for Mastermind Basic Edition and receive a free Pro trial here.