Mastermind
Genomic Search Engine

Empowering variant scientists with the most comprehensive evidence



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Are you confident that you have all the evidence
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

The cause of these discrepancies is the lack of genomic evidence critical to diagnosis


Mastermind is the world’s most comprehensive source of genomic evidence


Mastermind is the world’s most comprehensive source of genomic evidence

Incomplete genomic evidence puts clinical diagnosis at risk


Legacy Nomenclature Makes Evidence Hard to Find

There are 172 unique ways authors describe the CFTR p.508del (deletion) variant, from 34,091 mentions to single mentions

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 files

Assertions are Not Supported by Evidence

Google Scholar, ClinVar, and PubMed can miss evidence for up to 70% of clinically encountered variants

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

Find everything you are looking for 5-10 times faster with Mastermind


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CHOOSE THE RIGHT PLAN FOR YOU. COMPARE MASTERMIND BASIC, PROFESSIONAL, AND ENTERPRISE EDITIONS

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
Genes19,30614,47011,702
Variants
22,140,346398,6411,538,444
Germline VariantsYESYESYES
Somatic VariantsYESNOYES
Journals35,6863,1003,555
Full-Text Articles Indexed8,904,72272,98795,007
Supplemental Datasets Indexed3,090,690N/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/ http://www.hgmd.cf.ac.uk/ac/index.php 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: JAN 2023