Towfique Raj
@towfiqueRaj
Icahn School of Medicine at Mount Sinai | @Gates_Cambridge Alum | Previously: @Cambridge_Uni | @broadinstitute, @harvardmed |@DrexelUniv. #FlyEaglesFly
The inaugural #Alzheimers @GordonConf speaker lineup is live! A few slots are still available, so encourage your fellows and students to submit abstracts for short talks. Don’t miss out—register today! grc.org/alzheimers-dis…
Thrilled to be co-chairing the inaugural #Alzheimer’s @GordonConf from June 22-27, 2025. This conference will delve into #AI/#ML, #omics, stat. genetics, fungen, sysbio, #neuroimaging, & other topics. Outstanding lineup of speakers and registration will open soon. Stay tuned!
📣 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
A HUGE CONGRATULATIONS to Dr. @EricJNestler on being named Interim Dean @IcahnMountSinai! 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 @MountSinaiNYC.
Ecstatic to see our paper "Long-read RNA sequencing atlas of human microglia isoforms elucidates disease-associated genetic regulation of splicing" now published in @NatureGenet with @towfiqueRaj @panos_roussos @SinaiBrain nature.com/articles/s4158…
SUPER BOWL CHAMPIONS! THIS ONE’S FOR YOU PHILLY!
LOOKING FORWARD to the inaugural #Alzheimer’s @GordonConf co-chaired by @towfiqueRaj & @bcmhouston’s Olivier Lichtarge. Vice Chair’s: @karchlab & @YokoyamaLabUCSF. Delve into #AI/#ML, #omics, stat. genetics, fungen, sysbio, #neuroimaging, & more. REGISTER👉grc.org/alzheimers-dis…
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…
New online! Immune mechanisms and shared immune targets in neurodegenerative diseases go.nature.com/3DgkkJI
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…
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
Thrilled to be co-chairing the inaugural #Alzheimer’s @GordonConf from June 22-27, 2025. This conference will delve into #AI/#ML, #omics, stat. genetics, fungen, sysbio, #neuroimaging, & other topics. Outstanding lineup of speakers and registration will open soon. Stay tuned!
Specificity, length, and luck: How genes are prioritized by rare and common variant association studies biorxiv.org/cgi/content/sh… #biorxiv_genomic
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…
Towards the #AI virtual cell, which would represent one the most extraordinary achievements in life science cell.com/cell/fulltext/… @CellCellPress @StephenQuake @czi @cziscience @_bunnech
Nice benchmarking study of 10 different foundation models for single cell data analysis..important best practices, limitations and insights to guide future applications @HongyuZhao2 biorxiv.org/content/10.110…
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…
Congratulations @_anjalidas & @david_a_knowles! “Gruyere” new method for rare variant association testing. #Alzheimers #ADSP #AI/#ML
Our first foray into (noncoding) rare variant association testing! gruyere learns functional annotation importance & finds associations missed by existing methods. @_anjalidas did a fantastic job with model assessment & scaling! Joint w @towfiqueRaj 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…
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…