Stephen Montgomery

Further, as a regular grant reviewer, I am always looking for the thing that is paradigm changing and new too. As are my colleagues.

I get your larger point that "science" shouldn't go all in on any one area. But to have this criticism and suggest it "causes harm" at this particular point in time is missing another environment.

I think the rare disease community might disagree here. Sure there are teratogens. But there are 1000s of congenital, genetic disorders that have and continue to be solved by advances derived from the human genome project.

"Illumina Appoints Former NHGRI Director Eric Green as Chief Medical Officer"
www.genomeweb.com/sequencing/i...

I was reviewer 3. I can send you my review.

I almost get hit by a car every other week. Last night some guy went through a stop sign while I was crossing on my bike.

I didn't know I could murder them..

GREGoR: accelerating genomics for rare diseases - Nature The GREGoR consortium provides foundational resources and substrates for the future of rare disease genomics.

New in @nature.com! “GREGoR: Accelerating Genomics for Rare Diseases” highlights how the GREGoR Consortium is advancing rare disease discovery through data sharing, multi-omics, and next-gen sequencing across 7,500+ individuals in 3,000+ families.

🧬 www.nature.com/articles/s41...

GREGoR: accelerating genomics for rare diseases - Nature The GREGoR consortium provides foundational resources and substrates for the future of rare disease genomics.

Read about our efforts in the NHGRI's GREGoR Consortium to tackle some of the hardest-to-solve rare disease diagnoses. Online now www.nature.com/articles/s41...

Strober Lab The Strober lab is a computational group at Boston Children's Hospital (a Harvard Medical School affiliated hospital) focused on developing statistical and machine learning tools applied to human gene...

Exciting updates!!
(1) I just opened my lab at Boston Children’s Hospital (Harvard-affiliated)
(2) I’m hiring a postdoc focused on integrating GWAS and functional genomic data. Reach out if you’re interested or connect at ASHG next week!
(3) Learn more at stroberlab.com

Thank you to all our members and collaborators for an inspiring and productive @gregor-research.bsky.social meeting last week in San Diego! ☀️🧬

#RareDisease #Research

I'd reckon that a good amount of news articles would benefit from a few scientists doing peer and editorial review.

Higher eQTL power reveals signals that boost GWAS colocalization Expression quantitative trait locus (eQTL) studies in human cohorts typically detect at least one regulatory signal per gene, and have been proposed as a way to explain mechanisms of genetic liability...

Excited to share this preprint from first author Jon Rosen, a postdoctoral fellow in the @klmohlke.bsky.social lab and my lab. We examine eQTL study sample size and how this affects signal discovery and rates of colocalization with GWAS.

www.biorxiv.org/content/10.1...

Announcing 2025 Awardees

🚨Just Announced: The 2025 ASHG Professional Award Winners! Meet the innovators shaping the future of human genetics.

💥Full list & details: www.ashg.org/membership/a...
#ASHG #HumanGenetics

The Somatic Mosaicism across Human Tissues Network - Nature The Somatic Mosaicism across Human Tissues Network aims to create a reference catalogue of somatic mosaicism across different tissues and cells within individuals.

The cells in our bodies constantly acquire mutations. But what are the patterns of mutations across tissues? How do mutations in normal cells lead to cancer and disease? These are questions we will tackle within the Somatic Mosaicism across Human Tissues (SMaHT) Network, now described in @nature.com

People always stop me in the street to ask: "Yoav, where are the disease-associated eQLTs? We found a lot in GTEx but we can't find anymore. Do you know where they are?"

(For the record, no one has ever asked me this, but it is a really good question!)

I think we know where they are.

In general, there are settings where (1) there are independent-acting variants in partial LD or (2) a single variant acting on multiple genes or (3) multiple variants on multiple neighboring genes. There are prior examples of CTCF variants with proxitropic effects. Some SVs are clear examples.

What a joy to work on exciting science AND do it with a great friend like @itskatelawrence.bsky.social! Check out her 🧵 on our recent preprint with @sbmontgom.bsky.social:

Standard methods are equivalent to a flashlight, looking at each gene independently. We combine signals from multiple genes, turning a floodlight onto the genome.

Excited to share my first PhD paper in the @sbmontgom.bsky.social lab with @tamigj.bsky.social (www.biorxiv.org/content/10.1...)! Standard QTL methods treat each gene independently. But what if a single variant regulates multiple nearby genes at once - what we call “allelic proxitropy”? 🧵 ⬇️

Focus on single gene effects limits discovery and interpretation of complex trait-associated variants Standard QTL mapping approaches consider variant effects on a single gene at a time, despite abundant evidence for allelic pleiotropy, where a single variant can affect multiple genes simultaneously. ...

“Focus on single gene effects limits discovery and interpretation of
complex trait-associated variants” Very interesting preprint by Kathryn Lawrence @tamigj.bsky.social @sbmontgom.bsky.social
good arguments to move beyond single-gene-at-a-time approaches 🧪🧬
www.biorxiv.org/content/10.1...

huge congrats Ben!

huge congrats!!

📣Online now!
📄Transcriptomic signatures of rare variant impacts across sex and the X-chromosome
🧑‍🤝‍🧑 @raungar.bsky.social @sbmontgom.bsky.social & co
👉https://bit.ly/4kmWc8Z

This is VERY big genetics & health news, Regeneron (Pharmaceutical company with v strong genetics in medicine arm) is going to buy 23andme. investor.regeneron.com/news-release...

Huge congrats @soumyakundu.bsky.social !!

Come and join us! We’re hiring a new Group Leader in Generative Biology at the @sangerinstitute.bsky.social

Building AI models or the data to train them?

Core funding of >$130M a year for a faculty of ~30.

www.nature.com/naturecareer...

acrobat.adobe.com/id/urn:aaid:...

pls RT!

Auditoriums that don't allow people to bring in coffee.

Our new contribution to the quest to find causal GWAS genes! Sam Ghatan from my lab at @nygenome.org led a systematic comparison of eQTLs and CRISPRi+scRNA-seq screens. TL;DR: they provide highly complementary insights, with ortogonal pros and cons. 🧵👇
www.biorxiv.org/content/10.1...

⏳Only 4 days left to nominate! Do you know someone who has contributed through research, mentoring, advocacy, or leadership to the field? Give them the recognition they deserve! Nominate them for our professional awards before May 9! 🏆👉 www.ashg.org/membership/a... #ASHG

"An abstract is an incredible chance to showcase what you've accomplished so far and show where your project might go in the future," which is why you should submit to #ASHG25! Hear past presenter, Andrew Marderstein, PhD, share the benefits of submitting. ⤵️ youtube.com/shorts/BmYiS...

Huge congrats!!