Nucleati

Pioneering fully automated medical-grade evidence collection and curation to empower precision medicine.

[Nucleati @nucleati]

How Nucleati Germline Cancer Evidence Base help identify evidence for variant classification and gene validity assessment. Check out our in-depth data analysis. https://t.co/CyuOi1Qi90

[Nucleati @nucleati]

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

🔗 https://t.co/7ma2CE2CmT

#ACMGMtg26

[Nucleati @nucleati]

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

🔗 https://t.co/7ma2CE2CmT

#ACMGmtg26

[Nucleati @nucleati]

🧬 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.

https://t.co/7ma2CE2CmT
https://t.co/68gn7ZpsqW

#ACMGMtg26 #Genomics #VariantInterpretation

[Nucleati @nucleati]

🧬 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.

https://t.co/7ma2CE3acr
https://t.co/68gn7Zq0gu

#ACMGMtg2026 #Genomics #VariantInterpretation

[Nucleati @nucleati]

@studyrare The patient's presentation suggests a diagnosis of McCune-Albright syndrome probably caused by mutation in the GNAS/GNAS1 gene.

[Nucleati @nucleati]

@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.

[Nucleati @nucleati]

We are excited to share a compilation of evidence for
PRF1 and HLH/Hematological malignancies https://t.co/Oo2qB5fLWc with the help of the Nucleati Germline Cancer Evidence Base https://t.co/3kcC14HcjA #GeneChat #GCChat. Reply with cancer gene you want to see the evidence for.

[Nucleati @nucleati]

Please read our new blog post summarizing patients reported with #RUNX1 mutations resulting in blood disorders and malignancies. https://t.co/UqskYBR2wJ #cancer #GCChat #GeneChat Generated with case reports in Nucleati Germline Cancer Evidence Base. https://t.co/3kcC14HcjA

[Nucleati @nucleati]

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 https://t.co/vLobRjGaqv

[Nucleati @nucleati]

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. https://t.co/R2up6bF0Od #GeneChat #genomics #AI #GeneticVariations

[Nucleati @nucleati]

@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 https://t.co/dfr76dkgWL #PrecisionMedicine

[Nucleati @nucleati]

Case reports with BAP1 mutations #notinClinVar
https://t.co/97Vt4qg64l | c.758dup | Thr254AspfsTer30
https://t.co/y4B3l07qTo | c.2054A>T | Glu685Val
https://t.co/hHZ44IAYON | c.2001del | Thr668ProfsTer24
Courtesy: https://t.co/p6V9Vfq8Wd #precisionmedicine #gcchat #genechat

[Nucleati @nucleati]

Should this case report (https://t.co/WZbckX3Tky) help to update the pathogenicity of NM_004656.4(BAP1):c.535C>T (p.Arg179Trp) variant https://t.co/1fSEl8VhDc ? Find more case reports at Nucleati Germline Cancer Evidence Base (https://t.co/p6V9VfpB6F). #GCChat #Genechat

[Nucleati @nucleati]

Read our latest post on ARMC5 mutations and meningioma https://t.co/FIPny4S52u

[Nucleati @nucleati]

Our latest blog post on SPINK1 association with pancreatic cancer
https://t.co/UvuGAozitt

[Nucleati @nucleati]

Article on how Nucleati Adverse Drug Reaction Knowledgebase https://t.co/vUAJVRgcor helps to find and compile evidence of the association between Irinotecan toxicity and UGT1A1/ABCB1. https://t.co/WcC48bVP4j

[Nucleati @nucleati]

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 https://t.co/vUAJVQYAZR.

#ArtificialIntelligence
#pharmacoGenomics #drugs #patients

[Nucleati @nucleati]

Read our latest blog post:
Role of rubrics in the Determination of Association, Causation, and Classification in the Medical Field
https://t.co/wMfQtDHLLG
#EBM
#genomics