@val-arboleda.bsky.social
🎉 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).
We untangle three genetic factors—variant impact (ESM1b), polygenic risk scores, and genetic interactions (epistasis).
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...
rdcu.be
June 18, 2025 at 10:09 PM
🎉 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).
We untangle three genetic factors—variant impact (ESM1b), polygenic risk scores, and genetic interactions (epistasis).
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:
June 6, 2025 at 5:36 AM
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:
Congrats to Angela! She gave a great PhD thesis defense today! 🎉🎉😊
June 3, 2025 at 9:02 PM
Congrats to Angela! She gave a great PhD thesis defense today! 🎉🎉😊
Good luck Oliver! We ( all all your school friends and my kiddos !) are cheering for you!
LA’s very own Oliver Halkett, a 7th grader from Silver Lake, is competing in the final round of the Scripps National Spelling Bee tonight!
Oliver, Los Angeles is so proud of you, and we are cheering you on!
Oliver, Los Angeles is so proud of you, and we are cheering you on!
7th grader from Silver Lake competing in Scripps National Spelling Bee final
Thanks to the word “gobbe,” a 7th grader from Silver Lake is competing in the Scripps National Spelling Bee final on Thursday night. Oliver Halkett, a student at the Mirman School in Bel Air, will com...
www.audacy.com
May 30, 2025 at 12:07 AM
Good luck Oliver! We ( all all your school friends and my kiddos !) are cheering for you!
Some new work from our lab and collaboration with the Backus Lab at UCLA!
📣New from Palafox et al!
📄Prioritizing disease-associated missense variants with chemoproteomic-detected amino acids
📄Prioritizing disease-associated missense variants with chemoproteomic-detected amino acids
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 ...
www.cell.com
May 25, 2025 at 5:06 AM
Some new work from our lab and collaboration with the Backus Lab at UCLA!
Reposted
📣New from Palafox et al!
📄Prioritizing disease-associated missense variants with chemoproteomic-detected amino acids
📄Prioritizing disease-associated missense variants with chemoproteomic-detected amino acids
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 ...
www.cell.com
May 23, 2025 at 2:32 PM
📣New from Palafox et al!
📄Prioritizing disease-associated missense variants with chemoproteomic-detected amino acids
📄Prioritizing disease-associated missense variants with chemoproteomic-detected amino acids
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!
February 8, 2025 at 5:28 PM
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!