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Alzheimer's Disease Sequencing Project (ADSP), the "world's largest publicly available AD genome resource", releases (R4) whole genome sequencing data of 36,361 individuals. Leung, Lee, et al. medRxiv medrxiv.org/content/10.110…

Interesting work on the genetic relationship between Parkinson's disease and 'ability to smell'. 'Using Mendelian randomization, we found evidence for a strong causal relationship between PD and liability towards poorer sense of smell, but weaker evidence for the reverse

Congratulations Anjali Das & David A Knowles (@davidaknowles.bsky.social)! “Gruyere” new method for rare variant association testing. #Alzheimers #ADSP #AI/#ML

Medicine thrives on knowledge, yet clinical vocabularies are fragmented. AI struggles to unify this knowledge, creating a gap in precision medicine. Excited to share unified clinical vocabulary embeddings, a project led by stellar Ruthie Johnson Half of healthcare foundation AI

Nice benchmarking study of 10 different foundation models for single cell data analysis..important best practices, limitations and insights to guide future applications Hongyu Zhao biorxiv.org/content/10.110…

Towards the #AI virtual cell, which would represent one the most extraordinary achievements in life science cell.com/cell/fulltext/… Cell Stephen Quake Chan Zuckerberg Initiative CZI Science Charlotte Bunne

Dissecting the mechanism of African ancestries-enriched GBA1 risk variant for Parkinson's disease (PD). Another cool example to remind we shouldn't always expect one-one relationship between RNA and protein expression. Last year, a GWAS of PD in African ancestries identified a

Specificity, length, and luck: How genes are prioritized by rare and common variant association studies biorxiv.org/cgi/content/sh… #biorxiv_genomic

New online! Immune mechanisms and shared immune targets in neurodegenerative diseases go.nature.com/3DgkkJI

Super excited to release this new preprint: Jeff and Hakhamanesh drill into key questions about GWAS and rare variant studies: What SNPs and genes do these discover and why? We introduce a concept called SPECIFICITY, which we show is a fundamental determinant of GWAS/RV studies

1/ 🧵 So excited to finally share our preprint! Long-read sequencing of hundreds of diverse brains provides insight into the impact of structural variation (SV) on gene expression and DNA methylation- A new genomic resource for brain research! 🧠✨biorxiv.org/content/10.110…

This is the most comprehensive review on Alzheimer’s and inflammation I’ve read in a long time. Highly recommended for anyone interested in learning about AD research or future therapeutic possibilities in AD. nature.com/articles/s4157…

LOOKING FORWARD to the inaugural #Alzheimer’s Gordon Research Conferences co-chaired by Towfique Raj & BCMHouston’s Olivier Lichtarge. Vice Chair’s: Celeste Karch & Jennifer Yokoyama. Delve into #AI/#ML, #omics, stat. genetics, fungen, sysbio, #neuroimaging, & more. REGISTER👉grc.org/alzheimers-dis…

WE’RE GOING TO THE SUPER BOWL!!!!!!

Go Birds.

SUPER BOWL CHAMPIONS! THIS ONE’S FOR YOU PHILLY!

Jalen Hurts. Super Bowl Champion. #SBLIX

Ecstatic to see our paper "Long-read RNA sequencing atlas of human microglia isoforms elucidates disease-associated genetic regulation of splicing" now published in Nature Genetics with Towfique Raj Panos Roussos Friedman Brain Institute nature.com/articles/s4158…

A HUGE CONGRATULATIONS to Dr. Eric J. Nestler, MD, PhD on being named Interim Dean Icahn School of Medicine at Mount Sinai! As we express great enthusiasm for Dr. Nestler becoming Dean & the exciting time ahead, please join us in thanking Dean Charney for his extraordinary service & commitment to Mount Sinai Health System.

📣 We are proud to announce our new partnership with researchers at the Icahn School of Medicine at Mount Sinai to generate the largest single cell dataset examining alternative splicing events in the cells of Alzheimer's and Parkinson's patients. parse.bio/46blJ0A