Mastermind
Genomic Intelligence Platform
Genomic Intelligence Platform
The World of Genomic Literature at your Fingertips
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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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MASTERMIND MASTERCLASS: NEW GENE INFORMATION PAGE
Learn how Mastermind puts comprehensive gene information at your fingertips
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
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.
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 Institutefor Genomic Medicine used Mastermind to make a
life-changing diagnosis for a sick newborn
READ FITZ'S STORY
Mastermind is integrated into your favorite software
Choose the right plan for you. Compare Mastermind Basic, Professional, and Enterprise Editions
HOW DOES MASTERMIND COMPARE?
A Side-by-Side Summary
| Mastermind | HGMD | ClinVar | |
|---|---|---|---|
| Genes | 19,346 | 15,493 | 17,213 |
| Variants | 23,705,021 | over 456,000 | 1,818,971 |
| Germline Variants | YES | YES | YES |
| Somatic Variants | YES | NO | YES |
| Journals | 36,305 | 3,100 | 3,792 |
| Full-Text Articles Indexed | 9,342,310 | 72,987 | 108,063 |
| Supplemental Datasets Indexed | 3,182,337 | N/A | N/A |
| Update Schedule | Weekly | Quarterly | Weekly |
| Free Version Content | Up to Date | 3 Years Old | Up to Date |
| Interpretation Criteria | ACMG/AMP | Own Criteria | ACMG/AMP |
| ACMG Gene Curation Parameters | YES | NO | NO |
| Clinical Exome Genes Curated based on ClinGen recommendations | YES | NO | NO |
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: OCTOBER 2023