Michael Betti

@mjbetti.bsky.social & co of @ajhgnews.bsky.social latest article performed a comprehensive multi-ancestry genetic analysis of lung cancer, identifying four genomic regions linked to disease susceptibility & biological pathways relevant to cancer and lung function: www.cell.com/ajhg/abstrac... #ASHG

Genetic analysis in African ancestry populations reveals genetic contributors to lung cancer susceptibility We performed a comprehensive genetic analysis of lung cancer in 6,490 individuals of African ancestry. We identified four genomic regions not previously associated with lung cancer and used in silico ...

📣Online now!
📄Genetic analysis in African ancestry populations reveals genetic contributors to #lungcancer susceptibility
🧑‍🤝‍🧑 @m-aldrich.bsky.social @mjbetti.bsky.social & co

#GeneSky #Bioinformatics #RNA #genomics 🧬 🖥️

Can you please add me as a contributor? Thank you!
orcid.org/0000-0001-83...

We next performed eRNA-based TWAS across nearly 5,000 complex traits in the UK Biobank, uncovering over 88,000 highly significant eRNA–tissue associations.

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Using these models, we imputed both eRNA and canonical gene GReX in ~70,000 individuals. We then trained a neural network-based regression model to predict 3D chromatin contact frequency between enhancer–enhancer and enhancer–gene pairs using GReX.

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In this work, we trained predictive models of genetically regulated expression (GReX) of eRNAs across 49 human cell and tissue types.

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While the roles of enhancers in chromatin regulation and gene expression have been widely studied, the biological function of enhancer RNAs (eRNAs)—especially in the context of human disease—remains under-explored.

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Genetically regulated eRNA expression predicts chromatin contact frequency and reveals genetic mechanisms at GWAS loci - Nature Communications Here, the authors present trained models of genetically regulated enhancer RNA expression, finding that genetically regulated expression predicts chromatin contact frequency and that enhancer RNAs pla...

I’m excited to share the first paper from my Ph.D. dissertation work, “Genetically regulated eRNA expression predicts chromatin contact frequency and reveals genetic mechanisms at GWAS loci,” now published in Nature Communications! 🧪

www.nature.com/articles/s41...

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Huge thanks to my co-authors, especially my advisors Eric Gamazon and @m-aldrich.bsky.social!

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Finally, we mapped eRNA and canonical gene eQTLs and performed colocalization for ~1 million independent UKBB GWAS associations. We show that a substantially greater proportion (63%) of GWAS associations can be explained by an eQTL when eRNA eQTLs are included in colocalization analyses.

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A prognostic molecular signature of hepatic steatosis is spatially heterogeneous and dynamic in human liver Perry et al. use a translational approach across phenotypes, outcomes, circulating proteomics, and tissue transcriptomics to identify functional biomarkers of hepatic steatosis. These markers are asso...

📚🧪 A recent human #omics + in vitro study revealed important findings in Metabolic-Associated Steatotic Liver Disease (MASLD) research.
By Andrew S. Perry, Niran Hadad, Emeli Chatterjee, et al.
In @cellpress.bsky.social: www.cell.com/cell-reports...