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Dafil

@dafil

Opinions are my own! 🇨🇦🇧🇩

 Toronto, Ontario
Joined April 2009
  • Tweets3.3K
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Dafil@dafilMar 17
We have released SNV/Indel/SV pathogenicity Analysis Software Horizon. With Horizon, you can get germline and somatic variant insight for free. You can start small clinical genomics project yourself right away in our cloud, without a high-spec server. variant.genomearc.com/
https://variant.genomearc.com/

ALT https://variant.genomearc.com/

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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
Image from GenomeArc (@genomearc)
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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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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.
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Mutant neurons showed abnormal spinogenesis, dendritic complexity, and reduced action-potential firing. Long-read RNA-seq + proteomics revealed profound disruption of ion channels, synaptic transmission, glutamatergic signaling, and deep-layer cortical neuron programs.
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💥 Then came the exciting part: we designed an allele-specific ASO and full-length Neurabin replacement strategy, restoring molecular stability and reversing dysregulated synaptic programs. From variant → mechanism → therapeutic strategy. 🚀
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Image from GenomeArc (@genomearc)
Image from GenomeArc (@genomearc)
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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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It is fascinating to see how Anthropic beating @elonmusk in AI race, BYD beating @Tesla , Honda, Blue Origin started to compete @SpaceX and Synchron is already creating more impact than @neuralink Talent all around the world must be celebrated, not just one person.
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Dafil retweeted
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GenomeArc@genomearcAug 5
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
Image from GenomeArc (@genomearc)
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The studio will never forget
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Dafil retweeted
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GenomeArc@genomearcJun 6
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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Dafil retweeted
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GenomeArc@genomearcJun 6
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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RIP THE SCRIPT @Nike #Ad
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WORLD CUP VIDEO OUT NOW!!!!⚽️
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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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