Shweta Ramdas
Shweta Ramdas
@shwetaramdas.bsky.social
Studying the genomics of Indian populations @CBR_IISc. Mental health in academia. Outreach. @Umich transplant.
Pinned
Our mentor Casey Brown, apart from being an extraordinary scientist, was a brilliant teacher who loved everything genetics. In his honor, some of the world's leading experts came together to create the 'Casey Brown Lecture Series' on human genetics 1/ shorturl.at/eCm7S
Casey Brown Lecture Series - YouTube
shorturl.at
Our mentor Casey Brown, apart from being an extraordinary scientist, was a brilliant teacher who loved everything genetics. In his honor, some of the world's leading experts came together to create the 'Casey Brown Lecture Series' on human genetics 1/ shorturl.at/eCm7S
Casey Brown Lecture Series - YouTube
shorturl.at
January 4, 2025 at 2:54 PM
Reposted by Shweta Ramdas
Excited to share our latest work! We find that common-variant GWAS and rare-variant burden tests prioritize genes in fundamentally different ways, with important implications.

Check out Jeff’s excellent thread below👇
What do GWAS and rare variant burden tests discover, and why?

Do these studies find the most IMPORTANT genes? If not, how DO they rank genes?

Here we present a surprising result: these studies actually test for SPECIFICITY! A 🧵on what this means... (🧪🧬)

www.biorxiv.org/content/10.1...
Specificity, length, and luck: How genes are prioritized by rare and common variant association studies
Standard genome-wide association studies (GWAS) and rare variant burden tests are essential tools for identifying trait-relevant genes. Although these methods are conceptually similar, we show by anal...
www.biorxiv.org
December 17, 2024 at 7:21 PM
Reposted by Shweta Ramdas
December 12, 2024 at 10:19 PM
Reposted by Shweta Ramdas
Depending on how you count them there's something like 13000 unique traits in the @gwascatalog.bsky.social
Most new gwas add to our knowledge of these traits.

But some new gwas introduce new traits:

VICM = citrullonated and MMP degraded vimentin, a biomarker

pubmed.ncbi.nlm.nih.gov/38155185/
Citrullinated and MMP-degraded vimentin is associated with chronic pulmonary diseases and genetic variants in PADI3/PADI4 and CFH in postmenopausal women - PubMed
Citrullinated vimentin has been linked to several chronic and autoimmune diseases, but how citrullinated vimentin is associated with disease prevalence and genetic variants in a clinical setting remai...
pubmed.ncbi.nlm.nih.gov
November 24, 2024 at 8:38 PM