Amazing talk on thinking about genetic ancestry and discussion of narrow vs broad sampling by @jnovembre.bsky.social at the #OurDNA symposium this morning!

Spent the afternoon listening to @itaiyanai.bsky.social break down developmental constraints in #cancer, connecting AMR principles to cancer drug resistance.

Brilliant science aside, it was a masterclass in how to convey complex ideas incredibly clearly. Thanks for the amazing talk in Boston! 🧬

🔹 RD example: The poly(GCA) 5’ UTR repeat in #GLS not only associates with GLS expression, but also inversely associates with an upstream lncRNA, highlighting the strength of our genome-wide approach and the potential for a TR to modulate the expression of multiple genes. 6/9

🔹 Example: A 5'UTR poly(GCC) repeat in BCL2L11 significant in CD4 naive cells is likely driving a signal for inflammatory bowel disease, pointing to a role for TRs in T-cell regulation of #IBD. 5/9

🔹 Complex traits and disease : We show through colocalization that TRs are likely drivers of over 2,000 GWAS loci associated with immune-mediated and hematological traits, and further identify novel TRs warranting investigation in rare disease cohorts. 💪🧬 4/9

🔹 Resource: We cataloged 2.6M polymorphic TRs and identified over 58,000 single-cell expression quantitative trait loci (sc-eTRs) in 28 immune cell types—many with cell-type-specific roles! 💥 Link: biorxiv.org/content/10.1... 2/9

📢 New preprint alert: Excited to share our deep dive into the role of tandem repeats (TRs) in single-cell gene expression across the immune system, using WGS and scRNA-seq data from 1,790 individuals and over 5 million blood cells! 🧬
🧵👇 #repeats #SingleCell 1/9

🔹 Rare disease insight: The poly(GCA) 5’ UTR repeat in #GLS not only associates with GLS expression, but also inversely associates with an upstream lncRNA, highlighting the strength of our genome-wide, unbiased approach and the potential for a TR to modulate the expression of multiple genes. 6/9

🔹 Example: A 5'UTR poly(CGC) repeat in BCL2L11 significant in CD4 naive cells is likely driving a signal for inflammatory bowel disease, pointing to a role for TRs in T-cell regulation of #IBD. 5/9

🔹 Complex Traits and Disease : We show through colocalization that TRs are likely drivers of over 2,000 GWAS loci associated with immune-mediated and hematological traits, and further identify novel TRs warranting investigation in rare disease cohorts 💪🧬 4/9

🔹 Resource: We cataloged 2.6M polymorphic TRs and identified over 58,000 single-cell expression quantitative trait loci (sc-eTRs) in 28 immune cell types—many with cell-type-specific roles! 💥 Link: www.biorxiv.org/content/10.1... 2/9