Towfique Raj

@trajnp.bsky.social

Associate Professor, Icahn School of Medicine at Mount Sinai | @Gates_Cambridge Alum | Previously: @Cambridge_Uni | @broadinstitute, @harvardmed |@DrexelUniv.

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...

biorxiv.org

Thanks to FOX24News for having me on to spotlight #CADASIL. I hope this gives insight into this disease and highlights why we believe targeting blood vessels is key to developing effective treatments #VCID #EndDementia. More info below 👇 www.elahilab.com/

Elahi Lab

The Elahi Lab at Mount Sinai aims to understand vascular contributions to neurodegenerative diseases and to create new therapies that protect brain function.

elahilab.com

The Friedman Brain Institute@sinaibrain.bsky.social · 2y ago

While #Strokes & #Migraines might seem like unrelated health issues, they may actually be symptoms of something much deeper. Here, Mount Sinai's Dr Fanny Elahi discusses CADASIL, a rare, inherited type of vascular disease that can cause #Dementia. WATCH on FOX24News 👉 www.youtube.com/watch?v=vrFp...

Excited to share our first foray into (noncoding) rare variant association testing: a probabilistic model that learns functional annotation importance and finds associations missed by existing methods. Anjali did a fantastic job with model assessment and scaling! www.medrxiv.org/content/10.1...

Leveraging functional annotations to map rare variants associated with Alzheimer's disease with gruyere

The increasing availability of whole-genome sequencing (WGS) has begun to elucidate the contribution of rare variants (RVs), both coding and non-coding, to complex disease. Multiple RV association tes...

medrxiv.org