Genomenon

From our team to yours, we wish you a happy and healthy holiday!

Meet us at the Forbes Healthcare Summit today in NYC & learn how we're tackling real-world challenges of extracting and synthesizing data from the literature, and how AI plus expert curation can make that tractable! 📧 hello@genomenon.com

Genomic data is plentiful – regulatory-grade insight isn’t. Dr. Mark Kiel, CSO @genomenon, joins @Emerj #AIinBusinessPodcast to reveal how AI speeds trial design, rare disease diagnosis, and drug development. Listen: emerj.com/artificial-int… #EnterpriseAI #RealWorldEvidence #AIinPharma

Newborn Screening (NBS) is a public health triumph, but as programmes expand, a crucial truth emerges: universality isn't enough. Our new article explores how the same screen can yield different outcomes based on geography, population, and infrastructure. We delve into the critical need for a deeper commitment to equity, accessibility, and ethical design to ensure every baby receives the full promise of early detection. Read more about the global call to action for the NBS community, including industry, governments, and public health leaders. rarerevolutionmagazine.com/rare-insider/n… #NewbornScreening #NBS #HealthEquity #RareDisease #PublicHealth #EthicalDesign #RareRevolution

🤝 Meet the team at AMP 2025 at Booth 433 for live demos of our platforms for germline and somatic variant interpretation, the Cancer Knowledgebase (CKB) and Mastermind! #AMPath2025 #AMP2025 #CKB #MastermindGIP

Attending #AMPath2025? Join us this morning at 10am EST in 156AB Level 1 for our talk: 'Revealing the Value of Literature-Based Real-World Evidence - Transforming Trial Design, Label Expansion, and Clinical Decision-Making' & visit Booth 433 this week to say hello! 👋

Going to #AMPath2025 in Boston? 👋 Find Genomemon at Booth #433 and let’s chat about your work and how we can provide support! amp25.amp.org

We’re excited to kick off Day 2 of #ASHG25! Join Golden Helix & @Genomenon in Theater 2 at 10:15 for Automating Genomic Workflows: Cutting Interpretation Time, Accelerating Turnaround, and Increasing Diagnostic Yield. Learn more here: bit.ly/3KzepDv #GoldenHelix

🗓️ Tomorrow! Meet us in Theater 2 at 10:15am EDT for our #ASHG25 CoLab talk w/@GoldenHelixInc on Automating Genomic Workflows ⚙️ Hear how our partnership enhances genomic interpretation & delivers high-confidence, literature-backed insights to clinical laboratories worldwide.

October is Healthy Lung Month 🫁 Access curated literature, variant insights, and clinical context for KCNK3, ENG & CFTR in #MastermindGIP plus 30 additional clinically relevant genes through December 🧬 Get started with a free account today: bit.ly/4nS6DmV

Meet us at #ASHG25 this week in Boston! 🤝 Live demos of #MastermindGIP and #CKB at Booth 1258, check out our CoLab with @GoldenHelixInc on Thursday in Theater 2 & ask us about our poster submission! Connect with the team to learn how we're making genomic evidence actionable 🧬

#GLUT1DeficiencySyndrome is a rare neurological disorder caused by pathogenic variants in the SLC2A1 gene 🧬 This along with 32 other clinically relevant genes are freely available in Mastermind CORE through December. Get started today with a free account: bit.ly/4pUnl6i

❔How do you take 20,000+ oncology tests a year and make the results faster, consistent, and actionable? Read the latest #webinar recap with #CKB & @NorthwesternMed: bit.ly/46y7lPX

Today we honor those living with #LaforaDisease, their families & the researchers striving for breakthroughs. Awareness is the first step toward better care and better therapies. Get Mastermind PRO & access this valuable data: bit.ly/475omB2 #FightLafora

By drawing on functional studies, case series, patient registries & decades of literature, #RWE provides the missing context to reclassify uncertain variants as pathogenic or benign - turning ambiguity into actionable knowledge. See the latest #blog: bit.ly/4nljehY

Every baby deserves the best possible start in life. 💙 That’s why Newborn Screening Awareness Month matters to us at Genomenon. 👉 Learn how we’re helping shape the future of #NBS genomenon.com/blog/future-ne…

In honor of #CharcotMarieTooth Awareness Month the LMNA gene 🧬 is free to explore in #MastermindGIP throughout September. Not a user yet? Create your free account: mastermind.genomenon.com/users/sign_up/…

We are pleased to announce our strategic partnership with @genomenon. This collaboration allows the Mastermind Genomic Intelligence Platform and Cancer Knowledgebase to integrate seamlessly into the VarSeq Suite. 📣 Read the full press release here: bit.ly/3HEZnLn

🧬 #ABCB1 encodes P-glycoprotein, a “drug pump” moving chemo drugs out of cells. Variants can alter response - sometimes the difference between a drug that works and one that fails #GeneFact #Genomics #CancerResearch #CKB

Today is SATB2-Associated Syndrome Awareness Day! 🧬 #SATB2 variants cause a rare syndrome affecting brain, facial, and speech development. Free through September: Explore SATB2 + 32 genes in #MastermindGIP mastermind.genomenon.com/users/sign_up/…