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Genomenon | Advancing Clinical Confidence with Tools & Curated Insights

August 6, 2025

Michigan Business Network

At Genomenon, we know that solving the hardest diagnostic challenges in rare disease and cancer means going deeper than surface-level data. We connect the dots across the clinical literature to deliver variant-level clarity, gene-disease insights, and treatment-relevant interpretation at scale.

Below, explore how our latest curation milestones and product innovations for Mastermind and the Cancer Knowledgebase are transforming clinical genomics – one variant at a time.

In Q2, we reintroduced our free tier with a new name and expanded capabilities – Mastermind Basic is now Mastermind CORE.

Mastermind CORE delivers a more advanced feature set inspired by the functionality of our premium Mastermind PRO platform, applied to a curated set of clinically significant genes. This focused, powerful research tool makes variant interpretation more accessible, while serving as a gateway to the full Mastermind ecosystem.

🆓 Rotating Free Gene Access in Mastermind CORE! Each quarter we rotate a set of genes selecting them for their diagnostic relevance and aligning with awareness initiatives. This quarter’s Mastermind CORE update features 10 newly added genes covering a wide range of disorders, including sensory loss, neurodevelopmental, autoinflammatory and more – each linked to early-onset or multisystemic disease.

Ready to try Mastermind? Creating an account is free and takes seconds. Get started today.

Product Spotlight – Neurology Panel Genes now in Mastermind PRO!

We’re excited to announce the latest expansion of Mastermind’s genomic content – insights from 535 genes and over 36,000 variants commonly found in leading neurology genetic panels are now available. Curated by our expert scientific team using ACMG guidelines, these insights integrate data from gnomAD, REVEL scores, and expertly reviewed literature. This release is designed to accelerate variant interpretation, enhance diagnostic confidence, and advance research across a wide range of neurological disorders.

Watch this video to learn more!

Preparing for ACMG Guideline Changes: Our V4 Readiness Path

With Version 4 updates to the ACMG/AMP guidelines on the horizon, Genomenon is proactively evolving our internal SOPs and curation strategies. In our latest blog, we share how we’re aligning our variant interpretation to maintain clinical validity and transparency.

Blog Highlights

Batten Disease Awareness Day: Advancing Hope Through Genomic Insight

For Batten Disease Awareness Day last quarter, we offered free access to curated CLN3 variant data in Mastermind and highlighted the power of genomic clarity. We also had the honor of speaking with Bojana Mirosavljević, whose advocacy led to Zoja’s Law and expanded access to genetic testing for families worldwide.

Read the blog here.

Sickle Cell Awareness Day: Advancing Care Through the Power of Genetics

This blog explores how genetic insights are reshaping the diagnosis and treatment of Sickle Cell Disease (SCD). Learn about the impact of HBB variants, the challenges of interpretation, and how curated data from Genomenon’s Mastermind platform supports better-informed decisions.

Learn more about HBB variants here.

Undiagnosed Day: A Journey Without a Map, A Fight for Answers

On Undiagnosed Day, we spotlighted the global diagnostic odyssey and the power of variant interpretation. Mastermind was born from our founder Dr. Mark Kiel’s personal diagnostic odyssey – built to transform genomic insights into faster, clearer answers for patients still searching.

Read Dr. Kiel’s story here.

Cancer Knowledgebase (CKB) Quarterly Update

🆓 Rotating Free Gene Access in CKB CORE! This quarter, Genomenon expanded the CKB CORE collection to include curated variant data on 14 key tyrosine kinase genes. Tyrosine Kinases are a well-known class of enzymes critical in signaling pathways that regulate cell growth, division and survival making them frequent drivers of cancer when mutated or overexpressed.

Learn more about this quarter’s free genes!

Product Spotlight: Introducing the CKB Variant Navigator

We launched the CKB Variant Navigator – an intuitive tool for visualizing protein variants and identifying functional and resistance hotspots. Designed for fast clinical and therapeutic relevance, this new feature empowers users to explore the impact of specific mutations in real time.

Explore how this tool helps you move from investigation and insight to action with greater confidence.

Blog Highlights

Decoding Solid Tumors: How CKB Powers Precision Oncology with Genomic Intelligence

Learn how CKB empowers precision oncology by linking solid tumor variants to targeted therapies and clinical trials. With thousands of curated efficiency annotations, across major cancers, CKB helps turn genomic insights into actionable treatment decisions.

Read more here.

The Genetic Code Beneath the Surface: Uncovering Melanoma’s Molecular Blueprint

The growing availability of next-generation sequencing (NGS) and clinical-grade databases like CKB makes it easier than ever to interpret these results with clinical confidence. Read how CKB supports clinicians and researchers in navigating resistance, tailoring treatment, and improving outcomes for patients with melanoma.

Read the blog here.

Genomic Intelligence in Brain Cancer: From Curated Insights to Targeted Treatments

This blog highlights the power of Genomenon’s Cancer Knowledgebase (CKB) in curating clinically relevant variants from key brain cancer genes like IDH1, H3-3A, BRAF, PTEN, and more. These variant-level insights help clinicians and researchers personalize care, accelerate decisions, and improve outcomes in both pediatric and adult neuro-oncology.

Learn more here.

Where You Can Find Us Next

ASHG Annual Meeting
October 14-18
Boston, MA – BOOTH #1258

Meet our team and discover how we’re enabling clinical teams to interpret more variants in less time – without sacrificing accuracy.

AMP Annual Meeting Conference & Expo
November 11-15
Boston, MA – BOOTH #433

Stop by our booth to see how we’re transforming somatic variant interpretation with curated insights that support precision oncology and clinical decision-making.

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NEWS & ANNOUNCEMENTS

Genomenon Powers Groundbreaking Study on Genetic Drivers of Rare Liver Disorders

Intelliseq Integrates Genomenon’s Cancer Knowledgebase (CKB) into iFlow Platform to Advance Somatic Variant Interpretation

Need variant clarity? Let’s talk.
Whether you’re focused on rare disease, oncology, or clinical interpretation at scale, Genomenon’s team is ready to help.

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