Mastermind
Genomic Intelligence Platform

The World of Genomic Literature at your Fingertips



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DESIGNED FOR GENOMIC SCIENTISTS

Mastermind Genomic Intelligence Platform


Using AI and genomic expertise to accelerate patient diagnosis

Reduce Turnaround Time

Quickly uncover and interpret novel variants with useful gene and variant summary information, as well as a constantly expanding catalog of pre-classified variants

Increase Diagnostic Yield

Have confidence you will identify more disease-causing variants by reviewing all relevant articles using patented variant- and gene-matching algorithms

Accelerate Throughput

Streamline workflows by rapidly triaging variants to focus on known disease-causing genes, reducing the number of resources and steps needed

INTRODUCING MASTERMIND 3.0


Mastermind’s new Gene Information Page puts comprehensive gene information and ACMG gene-wide parameters for interpretation of variants in large panels/whole exomes/genomes at your fingertips, so you can find the answers you need from just one platform.

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?

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

Mastermind is integrated into your favorite software

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HOW DOES MASTERMIND COMPARE?


A Side-by-Side Summary

MastermindHGMDClinVar
Genes19,34618,95417,381
Variants
24,237,214over 456,0001,846,066
Germline VariantsYESYESYES
Somatic VariantsYESNOYES
Journals36,4493,1003,860
Full-Text Articles Indexed9,314,08072,987110,312
Supplemental Datasets Indexed3,167,871N/AN/A
Update ScheduleWeeklyQuarterlyWeekly
Free Version ContentUp to Date3 Years OldUp to Date
Interpretation CriteriaACMG/AMPOwn CriteriaACMG/AMP
ACMG Gene Curation ParametersYESNONO
Clinical Exome Genes Curated based on ClinGen recommendationsYESNONO

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/
https://digitalinsights.qiagen.com/news/blog/clinical/hgmd-free-vs-hgmd-pro/
UPDATED: FEBRUARY 2024

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


Be confident in the comprehensiveness of your evidence.