Mastermind
Genomic Search Engine

The World of Genomic Literature at your Fingertips



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DESIGNED FOR GENOMIC SCIENTISTS

Mastermind Genomic Search Engine


The Most Comprehensive Source of Published Genomic Evidence

Reduce Turnaround Time

Quickly identify and review the comprehensive empirical evidence, clinically prioritized with insight into each article to speed variant interpretation

Increase Diagnostic Yield

Access 100X more genomic evidence and 20X more variants than other sources to find relevant articles, resolve more VUSs, and diagnose more patients

Accelerate Throughput

Optimize your workflow by automating the acquisition and prioritization of genetic evidence with the Mastermind API

Are you confident you have all the information you need for variant interpretation?


A 2020 Study reported that laboratories disagreed on a variant’s classification 46% of the time, with 23% of those discrepancies being clinically impactful. Access to comprehensive evidence is critical for proper diagnosis.


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Are you confident you have all the information you need for variant interpretation?

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Why is searching for genomic literature so hard?


Legacy Nomenclature Makes Evidence Hard to Find

More than 74% of the genomic variants in publications are still in non-normalized forms1, making citations hard to find

Why is searching for genomic literature so hard?



Data is Hidden in the Body and Supplemental Text

Fewer than 6% of variants are identified in the title or abstract, the remainder present in the full-text or supplemental files1.

Why is searching for genomic literature so hard?

No more missing critical information.
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Incomplete genomic evidence puts patients at risk


One paper can change everything

Read the inspiring story of how Rady Children’s Institute
for Genomic Medicine used Mastermind to make a
life-changing diagnosis for a sick newborn


READ FITZ'S STORY
Incomplete genomic evidence puts patients at risk

Learn more about Mastermind in 60 seconds

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HOW DOES MASTERMIND COMPARE?


A Side-by-Side Summary

In just 3 years, Mastermind surpassed the two primary sources of genomic literature, and we continue to add new data weekly! Here is a snapshot comparison.
MastermindHGMDClinVar
Genes19,34515,49317,116
Variants
23,095,118444,0851,711,348
Germline VariantsYESYESYES
Somatic VariantsYESNOYES
Journals36,0753,1003,774
Full-Text Articles Indexed9,194,60772,987106,833
Supplemental Datasets Indexed3,182,337N/AN/A
Update ScheduleWeeklyQuarterlyWeekly
Free Version ContentUp to Date3 Years OldUp to Date
Interpretation CriteriaACMG/AMPOwn CriteriaACMG/AMP
Sources: http://www.hgmd.cf.ac.uk/ac/stats.php https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7497289/ http://www.hgmd.cf.ac.uk/ac/introduction.php?lang=english https://www.ncbi.nlm.nih.gov/clinvar/submitters/ https://digitalinsights.qiagen.com/news/blog/clinical/hgmd-pro-2023-2-is-now-available/ ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/var_citations.txt https://cosmic-blog.sanger.ac.uk/Release-v94/ https://cancer.sanger.ac.uk/cosmic/help/cnv/overview/ https://www.frontiersin.org/articles/10.3389/fgene.2020.577152/full https://digitalinsights.qiagen.com/products-overview/clinical-insights-portfolio/human-gene-mutation-database/ UPDATED: JULY 2023

Hundreds of labs are using Mastermind to increase diagnostic yield. When will you?


Be confident in the comprehensiveness of your evidence.