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GenomeArc

@genomearc

Accelerating #Genomic Medicine for Healthier Future!

 Toronto, Ontario
genomearc.com
Joined October 2020
  • Tweets4.2K
  • Following3.8K
  • Followers1.1K
158Media
Photo by GenomeArc (@genomearc)Photo by GenomeArc (@genomearc)Photo by GenomeArc (@genomearc)Photo by GenomeArc (@genomearc)Photo by GenomeArc (@genomearc)Photo by GenomeArc (@genomearc)Photo by GenomeArc (@genomearc)Photo by GenomeArc (@genomearc)Photo by GenomeArc (@genomearc)Photo by GenomeArc (@genomearc)
GenomeArc launching Horizon at #ashg2026 in Montreal. Horizon, a multimodal clinical genomics platform for rare diseases and cancer. We are also introducing assembly based interpretation, a first of its kind. For free access Visit booth 1716 at #asg2026 #rarediseases #cancer
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An amazing exhibition at #ASHG conference in Montreal. We celebrated launch of Horizon 3.0 platform, tertiary genome analysis platform for rare diseases and oncology. Visit our site to learn more: genomearc.com/
Image from GenomeArc (@genomearc)
Image from GenomeArc (@genomearc)
Image from GenomeArc (@genomearc)
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💥 When "uncertain" becomes "causal" We called PPP1R9A a VUS — accurate for the evidence then. Now: CRISPR neurons grew larger dendrites but fired poorly. More structure, less function. That's what moves a variant. genomearc.com/blog-show/MzY6… #RareDisease #Genomics
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GenomeArc retweeted
Dafil (@dafil) profile picture
Dafil@dafilAug 22
CADD, REVEL and AlphaMissense agreeing on a variant is not three lines of evidence. It's one line of evidence, said three times, by three models trained on overlapping data. PP3 doesn't stack. #genomics #longread #ACMG
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GenomeArc retweeted
Dafil (@dafil) profile picture
Dafil@dafilAug 19
From a VUS → neuronal dysfunction → therapeutic design. 🧬🧠 At CATG, MBRU, Dubai Health, we built an isogenic CRISPR-iPSC model of human cortical neurons with heterozygous PPP1R9A (Neurabin I) loss—turning a long-standing VUS into a functional mechanism.
Image from Dafil (@dafil)
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Search Somatic variant AMP tiers, with global access for 27 tumor type : variant.genomearc.com/
Image from GenomeArc (@genomearc)
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Image from GenomeArc (@genomearc)
Image from GenomeArc (@genomearc)
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GenomeArc Horizon is compatible for long read structural variation pathogenicity for germline and somatic. Try our demo: genomearc.com/#contact #longread #genome
Image from GenomeArc (@genomearc)
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A VUS with no second case stays a VUS. 🧬Search your variant free against Horizon's rare disease databases to find matching patients elsewhere. We have millions of currated variants to share. variant.genomearc.com/ #rarediseases #VUS #genome #diagnosis #genetics
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🧬 Pathogenic SNVs in STRC gene detectable via long-read sequencing due to segmental duplications . 💥 Horizon Singularity module interprets complex STRC variants(i.e compound het, or hom nonsense) with high precision. 💫Horizon interprets variant with clarity. #rarediseases
Image from GenomeArc (@genomearc)
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Search Your Complex Variant for Rare Diseases, with free global access to our server: variant.genomearc.com/
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nature.com/articles/s41591-0…
General-purpose large language models outperform specialized clinical AI tools on medical benchmarks

General-purpose large language models outperform specialized clinical AI tools on medical benchmarks

Nature Medicine - In an independent evaluation, frontier large language models outperformed specialized clinical artificial intelligence tools on medical knowledge, clinician alignment and...

nature.com
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Struggling with tricky variants in rare neurodevelopmental disorders? We unpacked 3 real cases in Horizon Series: 🧬 TCF4 – broader phenotypes 🧬KCNH1 - G6PD focal epilepsy 🧬KMT2D – Kabuki syndrome Long-read genomics delivering answers. #raredisease #Genomics #VUS #Gene
Image from GenomeArc (@genomearc)
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Watch all Horizon case series: youtube.com/playlist?list=PL…
The Horizon Case Series - Rare Disease and Cancer Patients

The Horizon Case Series - Rare Disease and Cancer Patients

Welcome to The Horizon Case Series playlist, a curated collection of deep-dive videos exploring real-world clinical applications and breakthroughs in precisi...

youtube.com
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Global Access, for everyone, predicting variant effect for rare disease (ACMG) and cancer (AMP). Type you germline or somatic variant for interpretation: variant.genomearc.com/ #raredisease #cancer #tumor #VUS #longread #genomics #genome #ACMG #AMP #somatic
Image from GenomeArc (@genomearc)
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NF1 deletion increases tumor risk. Horizon variant server returns multi-layer insights for geneticists: 🧬pathogenicity, 💊clinical trial drug insight, 🏥 three additional NF1 deletion samples Search your CNV/SV: variant.genomearc.com/ #NF1 #rarediseases #cancer #tumor #CNV
NF1 deletion.

ALT NF1 deletion.

Image from GenomeArc (@genomearc)
Image from GenomeArc (@genomearc)
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TF4 Gene variants and neurodevelopmental disorders. Part of GenomeArc's clinical genetics case series. 👉 Registration link in the comments. 📍 Watch (May 25, 2026) the case series on TCF4-related disorders:lnkd.in/gWfv97RB #raredisease #TCF4
Image from GenomeArc (@genomearc)
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Amazing! Since its launch one month ago, 50 genomic institutes are using Horizon ACMG/AMP variant classification server with free global access. Search your rare disease or tumor variant: variant.genomearc.com/ #raredisease #cancer #tumor #ACMG #AMP #variant #VUS
Image from GenomeArc (@genomearc)
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PTEN is a notorious pleiotropic gene; viewing both somatic and germline pathogenicity on a single page makes it easy to visualize disease associations across both cancer and rare diseases. Integrating ACMG and AMP for each variant. #cancer #somatic #rarediseases #PTEN
Image from GenomeArc (@genomearc)
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💡 This snapshot from the Horizon multimodal platform shows: -Germline ACMG Pathogenicity -Somatic AMP Tiers -Pharmacogenomic Insights -Case Insights Search your variant, free global access: variant.genomearc.com/
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