Nucleati @nucleati
Pioneering fully automated medical-grade evidence collection and curation to empower precision medicine. nucleati.com Houston, TX Joined February 2020-
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Do you know where to find 80,000+ indexed case reports with genetic findings? Explore them with Adenine AI — organized evidence for medical genetics. 📍 Visit us at Booth 1010 ACMG 2026 🔗 adenine.ai #ACMGMtg26
Do you know where to find 80,000+ indexed case reports with genetic findings? Explore them with Adenine AI — organized evidence for medical genetics. 📍 Visit us at Booth 1010 ACMG 2026 🔗 adenine.ai #ACMGmtg26
🧬 Visit Booth 1010 at ACMG 2026. Live demos: Adenine AI, VarSy, Tellers, and Flash VCF. Ask Adenine AI for counts of functional genetics articles and variants published in 2025. adenine.ai varsy.co #ACMGMtg26 #Genomics #VariantInterpretation
🧬 Visit Booth 1010 at ACMG 2026. Live demos: Adenine AI, VarSy, Tellers, and Flash VCF. Ask Adenine AI for counts of functional genetics articles and variants published in 2025. adenine.ai varsy.co #ACMGMtg2026 #Genomics #VariantInterpretation
@studyrare The patient's presentation suggests a diagnosis of McCune-Albright syndrome probably caused by mutation in the GNAS/GNAS1 gene.
@studyrare The findings described in the scenario is consistent with a diagnosis of Chediak-Higashi syndrome: A rare autosomal recessive disorder caused by mutation in LYST (CHS1) gene. Mostly supportive treatment with antibiotics, Ig repl, BMT is severe cases.
We are excited to share a compilation of evidence for PRF1 and HLH/Hematological malignancies tinyurl.com/43vs9b4p with the help of the Nucleati Germline Cancer Evidence Base tinyurl.com/mtcba6z7 #GeneChat #GCChat. Reply with cancer gene you want to see the evidence for.
Please read our new blog post summarizing patients reported with #RUNX1 mutations resulting in blood disorders and malignancies. tinyurl.com/2kmfnfu7 #cancer #GCChat #GeneChat Generated with case reports in Nucleati Germline Cancer Evidence Base. tinyurl.com/mtcba6z7
Nucleati Germline Cancer Evidence Base helped to identify evidence for 23 out of 35 cancer-predisposing variants presented during ACMG-2023. #GeneChat #genomics #AI #GeneticVariations #acmgmtg23 #GCChat tinyurl.com/2xhep4ca
We are excited to announce a new feature that helps search case reports, case series, and GWAS evidence in the Nucleati Germline Cancer Evidence base using variation information. kbs.nucleati.com/germline-cancer #GeneChat #genomics #AI #GeneticVariations
@AJHGNews @GeneticsSociety @reneegeck @reneegeck Identified 1,341 variants in G6PD and "classified" 268 variants using ACMG guidelines. G6PD deficiency resulting from mutations may cause neonatal cholestasis/hemolytic anemia. Remarkable resource and excellent work bit.ly/3XrZZX7 #PrecisionMedicine
Case reports with BAP1 mutations #notinClinVar tinyurl.com/25wzauzb | c.758dup | Thr254AspfsTer30 tinyurl.com/ks7h47cy | c.2054A>T | Glu685Val tinyurl.com/mrn7cac8 | c.2001del | Thr668ProfsTer24 Courtesy: tinyurl.com/mrxn3k99 #precisionmedicine #gcchat #genechat
Should this case report (tinyurl.com/5ate93p6) help to update the pathogenicity of NM_004656.4(BAP1):c.535C>T (p.Arg179Trp) variant tinyurl.com/3wcp58k8 ? Find more case reports at Nucleati Germline Cancer Evidence Base (tinyurl.com/mrxn3k99). #GCChat #Genechat
Read our latest post on ARMC5 mutations and meningioma tinyurl.com/2pd6ehyy
Our latest blog post on SPINK1 association with pancreatic cancer tinyurl.com/3rjxsw92
Article on how Nucleati Adverse Drug Reaction Knowledgebase kbs.nucleati.com/adverse-reacti… helps to find and compile evidence of the association between Irinotecan toxicity and UGT1A1/ABCB1. tinyurl.com/2p8mrt3f
As the first attempt to use semi-automated methods to power data curation, Nucleati is excited to release the Nucleati Adverse Drug Reaction Knowledge base kbs.nucleati.com/adverse-reacti…. #ArtificialIntelligence #pharmacoGenomics #drugs #patients
Read our latest blog post: Role of rubrics in the Determination of Association, Causation, and Classification in the Medical Field bit.ly/37QwSb0 #EBM #genomics
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