Towfique Raj

Welcome! You are invited to join a meeting: The Future of AI in Research “Is ChatGPT Smarter than Me?”. After registering, you will receive a confirmation email about joining the meeting. Welcome! You are invited to join a meeting: The Future of AI in Research “Is ChatGPT Smarter than Me?”. After registering, you will receive a confirmation email about joining the meeting.

Zoom your career 🤓🧠🧬https://us02web.zoom.us/meeting/register/tIp9vIuwSF2LJydcdpDIxQ#/registration

Day 2 of the CCAD Reunion Conference did not disappoint! Great conversations, poster sessions, and a fantastic group of scientists. #CCAD2025 #AlzheimersResearch #NewVisionResearch

@malutansey.bsky.social @panosroussos.bsky.social @bobalhill.bsky.social @hoppzor.bsky.social @bucklr01.bsky.social

Fantastic talks at #CCAD2025 Reunion Conference! @sinaibrain.bsky.social @jmcastell.bsky.social, Panos Roussos and Kuan-Lin Huang

The best way to judge the impact of the field’s investment is to ask “where are they now?” These New Vision Research #CCADalumni are crushing it 🤓💪🏼🧠🧬🦠🌡️🩺

Raj Lab @ #ADPD2025: Tatsuhiko Naito on mosaic chromosomal alterations (mCA) in #Alzhiemer’s (ID 1090, Fri 17:50, Hall F2) & Mikaela Rosen on scRNA-seq of PBMCs & T cells in #Parkinson’s (ID 1462, on demand).

Long-read RNA sequencing atlas of human microglia isoforms elucidates disease-associated genetic regulation of splicing - Nature Genetics This isoform-centric microglia genomic atlas includes 35,879 novel human microglia isoforms identified by long-read RNA sequencing. A multi-ancestry quantitative trait locus meta-analysis of known and...

Nice to see this finally published!
Congratulations @jack-humphrey.bsky.social

www.nature.com/articles/s41...

(Collaborative work with Panos Roussos and his team! )

Long-read RNA sequencing atlas of human microglia isoforms elucidates disease-associated genetic regulation of splicing

Outstanding lineup of speakers! If you are on @bsky.app, please tag yourself so that we can start following you!

LOOKING FORWARD to inaugural #Alzheimer’s #GordonConf co-chaired by @trajnp.bsky.social & @bcmhouston.bsky.social’s Olivier Lichtarge. Vice Chairs @karchlab.bsky.social & Jennifer Yokoyama. Delve into #AI/#ML, #omics, stat. genetics, fungen, sysbio, #neuroimaging & MORE 👉 www.grc.org/alzheimers-d...

I think the field needs to reconsider the widespread concept that microglia are The most important factor controlling synaptic pruning.🧠🧪

We offered our Perspective on whether they are hunters or gatherers of synaptic debris here
www.nature.com/articles/s41...

Happy Holidays from the lab! 🎄 We celebrated with a 'Squid Game'-themed team-building outing – full of fun and bonding! Here's to a fantastic new year ahead! #TeamBuilding #HappyHolidays

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...

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...

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/

3 reviews on planning, execution, & validation of transcriptomic experiments in neuroscience published in @natureportfolio.bsky.social #NatureNeuroscience.
A MUST READ if you're doing transcriptomics.
3 reviews, an amazing editorial, a beautiful cover – this is the issue of the year!
(mini thread)

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...

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...

Genetic basis of early onset and progression of type 2 diabetes in South Asians Nature Medicine - In a cohort of 50,556 South Asian individuals, partitioned polygenic scores helped identify genetic susceptibility to insulin deficiency and unfavorable fat distribution as key...

It’s a big day for @genesandhealth.bsky.social @samcbhodgson.bsky.social @moneeza-ks.bsky.social Genes & Health, with @ Sam Hodgson, Moneeza Kalhan Siddiqui and I, as we publish our paper rdcu.be/d1vj0 on the genetic basis of #type2diabetes & #gestationaldiabetes (#T2D and #GDM) in south Asians. A🧵

I’m still trying to figure this thing out. Do we have a “starter pack” for a list of people to follow for #neurodegeneration #neurogenomics #Alzheimer #Parkinson #als #ftd

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!

www.grc.org/alzheimers-d...

The journal Nature asked 6 biomedical scientists to briefly comment on what should be a U.S. priority going forward.
Here's mine.
www.nature.com/articles/d41...

Mapping enhancer-gene regulatory interactions from single-cell data Mapping enhancers and their target genes in specific cell types is crucial for understanding gene regulation and human disease genetics. However, accurately predicting enhancer-gene regulatory interac...

Excited to share our latest preprint on scE2G – a new model to link enhancers to target genes using single-cell data – with state-of-the-art performance across multiple perturbation benchmarks.

biorxiv.org/cgi/content/...

Read more below!

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Distinguishing real from invented problems with the NIH How does the NIH work and where does it work well?

I wrote about the National Institutes of Health and the various serious and unserious proposals for NIH reform that have been floating around. It is important to understand how this agency actually functions and point criticism at the right problems. A short 🧵:

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!

www.grc.org/alzheimers-d...

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