🎇Our new paper in @ScienceMagazine : Kidney Multiome-Based Genetic Scorecard Reveals Convergent Coding and Regulatory Variants. @Hongbo919Liu science.org/doi/10.1126/... - ThreadSky

ksusztak.bsky.social • 20 days ago

🎇Our new paper in @ScienceMagazine
: Kidney Multiome-Based Genetic Scorecard Reveals Convergent Coding and Regulatory Variants.
@Hongbo919Liu https://science.org/doi/10.1126/science.adp4753

Comments

paralkarlab.bsky.social•20 days ago

Congratulations! 🎉🎊

dguerrot.bsky.social•20 days ago

Bravo !

drjenkidney.bsky.social•20 days ago

This is very cool!

ksusztak.bsky.social•20 days ago

1. Full spectrum of genetic variants related to kidney function (1,000 loci). 2. Comprehensive annotation of discovered genetic variants using 32 new omics datasets and tools (QTLs, single cell data), uncovering 600+ genes for kidney function.

ksusztak.bsky.social•20 days ago

3. 161 genes previously believed to contribute only to rare monogenic diseases, which harbor common variants affecting CKD in the general population. 4. Discovered a large number of new druggable targets for kidney disease. 5. Developed a Kidney Genetics Scorecard for integration and interpretation

ksusztak.bsky.social•20 days ago

ksusztak.bsky.social•20 days ago

Dataset can be found https://www.susztaklab.com

jsxover.bsky.social•20 days ago

Much of stigma of kidney disease comes from patients being told (by doctors usually), that their disease is due to poor management of treatable conditions (diabets, hyperten).
Even when I cant offer a treatment, telling them that kidney problem is due to genes relieves so much guilt.
Thank you

ksusztak.bsky.social•20 days ago

Very much agree. Kidney function is a highly heritable trait