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Genomenon Achieves Critical Milestone with Half of Clinical Exome Curated

June 20, 2024 Ann Arbor, MI

Genomenon Achieves Critical Milestone with Half of Clinical Exome Curated

With this milestone, Genomenon announces availability of somatic and germline genomic data

Today, Genomenon, a genomics intelligence company, announced it reached a critical milestone in its mission to curate the human genome, having completed the curation of half of the clinical exome. With this significant curation completed, the company has formalized its Data Solutions program, with unprecedented insights across both germline and somatic variants.

The curation milestone comes on the heels of the company announcing its acquisition of the Clinical Knowledgebase (CKB) division from The Jackson Laboratory. CKB is the leading curated somatic variant database used to interpret complex cancer genomic profiles. Combined with Genomenon’s existing tech-enabled expertise on germline curation, the company now offers an unmatched understanding of the genome.

Genomenon’s Curated Genomic Data includes:

  • Germline Variants: Germline variants curated for inherited diseases and rare genetic disorders, following ACMG guidelines.
  • Germline Genes: Causative associations between genes and diseases curated to ClinGen guidelines
  • Somatic Variants and Genes: The CKB curated knowledgebase of somatic variants for interpretation in cancer including therapies and clinical trials

In addition to accessing this curated data through the company’s software products, which includes Mastermind and CKB, all data is also available for licensing to be built directly into clinical workflows or to be used for precision medicine trial inclusion criteria and drug discovery.

“It’s exciting to see the rapid progress we are making in our mission to curate the human genome. With the inclusion of CKB we have taken a giant leap forward, creating a body of evidence that represents the best in class for somatic and germline curation,” explained Genomenon CEO, Mike Klein. He continued, “With this data now available to our customers, we are empowering them with unparalleled access to high-quality, actionable genomic data. These insights ensure the accuracy of their diagnostic interpretation pipelines, leading to more informed decisions and improved patient outcomes.”

Genomenon announced its mission to curate the human genome in 2022 by systematically curating every published variant for every gene. In November of 2023, it announced its first significant milestone with curating the clinical exome at the gene level. The company’s goal is to complete the curation of the human genome by the end of 2025.

Media Contact:
Colleen McMillen


Genomenon is a genomics intelligence company dedicated to improving the quality of life of genetic disease and cancer patients by making genomic information actionable. Blending the power of AI with the precision of genomic expertise, the company empowers pharmaceutical companies and the clinical diagnostic community with empirical genomic evidence and insights that both support the development of novel therapeutics and speed diagnostic assessments and treatment recommendations.

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