GENOMENON

Ann Arbor,  MI 
United States
http://www.genomenon.com
  • Booth: 1206


Genomenon accelerates gene and variant curation.

Profile

Genomenon has eliminated the manual search process in gene and variant curation with a scientific literature database and software tools to rapidly and autonomously prioritize the literature for use in clinical decision-making. Our technology is revolutionizing the way genetic diagnoses and discoveries are made. We have mined the full text of millions of genomic-related articles from the scientific literature in PubMed to create Mastermind, a comprehensive genomic knowledge base that enables pathologists and geneticists to quickly and accurately curate disease-causing variants from genomic-sequencing datasets. With the comprehensive data set and deep insight into all of the genomic literature, we are able to provide some fascinating results – from accelerated gene and variant curation for clinicians to evidence-based panel design by scouring the literature to find genes, hot-spot regions and variants tied to specific diseases within the literature.


 Press Releases

  • New Product Dramatically Accelerates Genetic Variant Curation – Speeding Time to Diagnosis

     

    Ann Arbor, Mich - February 13, 2017 - Genomenon announces the launch of Mastermind, a novel analytic and data visualization tool that accelerates gene and variant curation by providing immediate insight into millions of prioritized scientific articles from the primary medical literature. Mastermind delivers a comprehensive knowledge base of disease-gene-variant relationships curated from primary medical literature, organized into clinical categories, and prioritized by the strength of evidence through our automated platform and algorithms to improve genetic diagnosis for patients with cancer and other genetic diseases.

    The challenge faced by clinicians when conducting genetic variant interpretation is that only a small fraction of the disease-gene-variant relationships found in the full-text of the scientific publications are captured in the titles or abstracts that PubMed searches. Mastermind solves this problem by finding and prioritizing the primary literature for any given disease-gene-variant combination through its full-text search of many millions of scientific articles. This reduces the time pathologists and geneticists spend searching for articles for variant curation by up to 80% and improves the accuracy of these interpretation.

     

    Genomenon founder, Mark Kiel MD, PhD, experienced first-hand the time it takes geneticists and pathologists to search through medical publications for disease, gene and variant relationships and developed Mastermind to address the problem. “As a molecular pathologist at the University of Michigan, 80% of my day was spent searching for information on PubMed, Google, COSMIC and HGMD and only 20% of my time was spent on interpreting the data” said Dr. Mark Kiel. “We developed Mastermind to allow highly trained clinicians to spend less time on inefficient and incomplete literature searches and let them focus their skills on interpreting the data for patient reports.”

     

    In developing Mastermind, Genomenon has spent the last three years poring through 3.3 million full-text articles and found every disease-gene-variant combination discussed in the literature covering somatic cancer, hereditary cancer, cardiomyopathy, and infertility. Mastermind has reviewed literature for all the genes from ThermoFisher’s Ion AmpliSeq comprehensive cancer panel, Illumina’s TruSight Tumor 170 solid tumor cancer panel, ThermoFisher’s and Fulgent’s hereditary cancer panels, and ThermoFisher’s, Illumina’s and Fulgent’s cardiomyopathy panels. Genomenon has found all the variants cited in the literature associated with each of these disease-gene combinations. The company is continuously expanding its database and plans to add over 3 million more articles covering additional genetic diseases over the next 6 months to assemble the most comprehensive database of genomic knowledge ever created.

     

    About Genomenon:

    Genomenon has eliminated the manual search process for gene and variant curation with a scientific literature database and visualization software of prioritized evidence for use in clinical decision-making. We have mined the full text of millions of genomic-related scientific articles to create a comprehensive genomic knowledge base that enables pathologists and geneticists to quickly and accurately curate disease-causing variants from genomic-sequencing datasets. With the comprehensive data set and deep insight into all of the genomic literature, we’re able to provide fascinating results – from accelerated gene and variant curation to evidence-based panel design – by scouring the literature to find genes and variants linked to specific diseases within the literature. For more information, visit www.genomenon.com or email sales@genomenon.com.

     

    Press Contact:

    Jessica Francis 440.840.4987 or email jessicafrancisPR@gmail.com

  • New Rational Panel Design Service Delivers Candidate Genes and Variants Culled from Medical Literature

    Ann Arbor, Mich - March 21, 2017 - Genomenon announces the launch of Mastermind Panel Design Service, a novel approach to finding genes and variants associated with a particular disease in the medical literature. Genomenon uses its Mastermind literature-driven knowledge-base to deliver a candidate gene list for any disease supported by medical literature citations and customized around customers’ specific requirements.

    "Mastermind Panel Design was born from customer demand” said Mike Klein, CEO of Genomenon. “Labs were using Mastermind to find all the disease-associated genes and were looking to further accelerate their panel design process.  By mining the Mastermind database backend, we have been able to deliver a turnkey gene panel in just a matter of days."

    Clinicians and researchers face a daunting challenge when developing gene panels for any particular disease.  Often the panels are designed by committee and require laborious searches of scientific literature to support the genes, exons and hotspots to include on a panel. As a result, each clinical reference lab screens different gene sets for the same disease.

    Looking across 55 clinical labs testing for cardiomyopathy, a total of 250 unique genes are targeted. However, of these 250 genes only 1 gene is included in every panel (ACTC1). Furthermore, only 60% of the panels included the top 20 most common genes and only 33% of the labs included the top 50 genes on their panels.

    Genomenon provides a more scientific, reproducible method to deliver the primary evidence required to build a gene panel to screen for a specific disease. Mastermind Panel Design not only drastically cuts the time it takes to create a new panel, it provides literature citations for each and every candidate variant, gene and exon selected to go on the panel.  Reference citations are important for clinical labs to provide a rationale for the diagnostic tests they are asking insurers to reimburse.

     

    Genomenon is able to deliver this break-through approach to panel design by mining Mastermind’s comprehensive database of disease-gene-variant relationships extracted from primary medical literature. Genomenon scientists provide a comprehensive list of candidate genes and variants (coding and non-coding, single nucleotide changes and small indels, amplifications/deletions and fusion events) tagged with a list of publications that associate the disease to the biomarker. The final panel can be curated from the candidate genes, exons and variants based on the associated literature. 

    About Genomenon: 

    Genomenon has eliminated the manual search process for gene and variant curation with a scientific literature database and visualization software of prioritized evidence for use in clinical decision-making. We have mined the full text of millions of genomic-related scientific articles to create a comprehensive genomic knowledge base that enables pathologists and geneticists to quickly and accurately curate disease-causing variants from genomic-sequencing datasets. With the comprehensive data set and deep insight into all of the genomic literature, we’re able to provide fascinating results – from accelerated gene and variant curation to evidence-based panel design – by scouring the literature to find genes and variants linked to specific diseases within the literature. For more information, visit www.genomenon.com or email sales@genomenon.com.

    Press Contact:​ 

    Jessica Francis 440.840.4987 or email jessicafrancisPR@gmail.com

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