Dafil retweeted
💥 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
Dafil retweeted
Search Somatic variant AMP tiers, with global access for 27 tumor type : variant.genomearc.com/
Dafil retweeted
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
Dafil retweeted
Watch all Horizon case series: youtube.com/playlist?list=PL…
Dafil retweeted
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
Dafil retweeted
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
Dafil retweeted
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
Dafil retweeted
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
Dafil retweeted
💡 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/
Dafil retweeted
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
Dafil retweeted
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
Dafil retweeted
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
Dafil retweeted
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
Dafil retweeted
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.
Unlocking Genomic Variant Insights: Your Free Resource for Rare Disease (Germline) and Cancer (Somatic) Variants communities.springernature.c…























