Mastermind
Genomic Intelligence Platform
Genomic Intelligence Platform
The World of Genomic Literature at your Fingertips
CREATE YOUR FREE ACCOUNT
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
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.
GET STARTED NOW
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.
Start searching in seconds with a free trial of Professional Edition.
Sign up in seconds. No credit card required.
Start searching in seconds with a free trial of Professional Edition.
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 | 19,349 | 18,954 | 17,395 |
Variants | 24,237,214 | 510,804 | 2,158,279 |
Germline Variants | YES | YES | YES |
Somatic Variants | YES | NO | YES |
Journals | 36,543 | 3,100 | 4,001 |
Full-Text Articles Indexed | 9,660,943 | 72,987 | 114,575 |
Supplemental Datasets Indexed | 3,355,036 | 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: APRIL 2024