Opinions are my own! 🇨🇦🇧🇩
Joined April 2009
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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/
ALT https://variant.genomearc.com/
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M Dafil retweeted
Jun 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
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Jun 4
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Jun 1
WORLD CUP VIDEO OUT NOW!!!!⚽️
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May 22
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
ALT NF1 deletion.
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M Dafil retweeted
May 22
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
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M Dafil retweeted
May 15
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
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M Dafil retweeted
May 7
💡 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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M Dafil retweeted
May 7
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
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M Dafil retweeted
Apr 29
To resolve VUS variants, Horizon Variant Knowledgebase provides global open access to additional insights with identical variants.
Search your VUS (SNV, Indel, SVs) to gain more insights:
variant.genomearc.com/
#VUS #rarediseases #Genome #Gene
ALT https://variant.genomearc.com/
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M Dafil retweeted
Apr 25
Search any variant to learn about their ACMG or AMP pathogenicity for #raredisease or #cancer This is free to use, and includes SNV, indels, and SVs, with non-coding annotations as well.
Horizon variant search server: variant.genomearc.com/
#rarediseases #cancer #genome #VUS
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M Dafil retweeted
Apr 5
Search your somatic variants to learn AMP Tier classification, drug insights and from additional tumors:
-AMP Tier classification
-FDA-approved drug insights
-Additional supporting tumor data
🚀 Search Your Somatic Variant: lnkd.in/dDc-WtM3
#cancer #tumor #somatic
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M Dafil retweeted
Apr 3
Doly Begum is ready to build a stronger, more prosperous, and more independent Canadian economy.
Early voting opens today in Scarborough Southwest and Election Day is April 13 — don’t forget to get out and vote.
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Type your SNV or Structural Variant (SV) to learn pathogenicity, germline or somatic. Interpreting SVs remains a great challenge in clinical #genomics. Excited to share a global variant insight resource (following ACMG and AMP guidelines), search variant: variant.genomearc.com/
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Unlocking Genomic Variant Insights: Your Free Resource for Rare Disease (Germline) and Cancer (Somatic) Variants communities.springernature.c…
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M Dafil retweeted
Mar 21
Excited to share our CNV study, 'Horizon: CNV interpretation through rapid automated ACMG-aligned pathogenicity analysis'
#RareDisease #Genetics
Here is the paper: link.springer.com/article/10…
You test your CNV/SV pathogenicity, with free access:
variant.genomearc.com/
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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/
ALT https://variant.genomearc.com/
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2
281