@val-arboleda.bsky.social
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🎉 Just published in Nature Communications: why carriers of the same pathogenic variant can have wildly different outcomes. We untangle three genetic factors—variant impact (ESM1b), polygenic risk scores, and genetic interactions (epistasis).
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Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions
Nature Communications - Here the authors investigate the underlying genetic mechanisms for pathogenic variant carrier phenotype heterogeneity using exomes and clinical phenotypes from the UK and...
https://rdcu.be/epzLx
3 months ago
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We’re humbled and excited to share that our lab at UCLA has been awarded new funding from the @KAT6Foundation! This support will help us:
4 months ago
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Congrats to Angela! She gave a great PhD thesis defense today! 🎉🎉😊
4 months ago
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Good luck Oliver! We ( all all your school friends and my kiddos !) are cheering for you!
add a skeleton here at some point
4 months ago
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Some new work from our lab and collaboration with the Backus Lab at UCLA!
add a skeleton here at some point
4 months ago
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reposted by
The American Journal of Human Genetics
4 months ago
📣New from Palafox et al! 📄Prioritizing disease-associated missense variants with chemoproteomic-detected amino acids
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Prioritizing disease-associated missense variants with chemoproteomic-detected amino acids
Mass spectrometry-based chemoproteomics can provide a high-throughput assessment of the likely functionality of specific sites on proteins. Here, we show that chemoproteomic measures of protein-based ...
https://www.cell.com/ajhg/fulltext/S0002-9297(25)00180-6
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So much great science at the BSCRC 20th anniversary stem cell symposium! Proud of Yaneth, an undergraduate doing research with us for her poster presentation!
8 months ago
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