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Reposted by Stephen Montgomery

Ben Strober @bennystrobes.bsky.social · 1d

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

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...

stroberlab.com

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Reposted by Stephen Montgomery

GREGoR Consortium @gregor-research.bsky.social · 19d

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

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Stephen Montgomery @sbmontgom.bsky.social · Aug 18

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

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Reposted by Stephen Montgomery

Michael Love @mikelove.bsky.social · Aug 18

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...

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...

www.biorxiv.org

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Reposted by Stephen Montgomery

American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · Jul 29

🚨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

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Reposted by Stephen Montgomery

Tim Coorens @timcoorens.bsky.social · Jul 3

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

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.

www.nature.com

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Reposted by Stephen Montgomery

Yoav Gilad @ygilad.bsky.social · Jun 10

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.

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Stephen Montgomery @sbmontgom.bsky.social · Jun 10

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.

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Reposted by Stephen Montgomery

Tami Gjorgjieva @tamigj.bsky.social · Jun 9

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:

Kate (Kathryn) Lawrence @itskatelawrence.bsky.social · Jun 8

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”? 🧵 ⬇️

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

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Reposted by Stephen Montgomery

Kate (Kathryn) Lawrence @itskatelawrence.bsky.social · Jun 8

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”? 🧵 ⬇️

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Reposted by Stephen Montgomery

Cedric Boeckx @cedricboeckx.bsky.social · Jun 7

“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...

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. ...

www.biorxiv.org

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Stephen Montgomery @sbmontgom.bsky.social · Jun 3

huge congrats Ben!

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Stephen Montgomery @sbmontgom.bsky.social · Jun 3

huge congrats!!

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Reposted by Stephen Montgomery

Human Genetics and Genomics Advances @hggadvances.bsky.social · Jun 2

📣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

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Reposted by Stephen Montgomery

Michel Nivard @michelnivard.bsky.social · May 19

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...

investor.regeneron.com

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Stephen Montgomery @sbmontgom.bsky.social · May 15

Huge congrats @soumyakundu.bsky.social !!

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Reposted by Stephen Montgomery

Ben Lehner @benlehner.bsky.social · May 6

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!

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Stephen Montgomery @sbmontgom.bsky.social · May 6

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

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Reposted by Stephen Montgomery

Tuuli Lappalainen @tuuliel.bsky.social · May 6

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...

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Reposted by Stephen Montgomery

American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · May 5

⏳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

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Reposted by Stephen Montgomery

American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · May 2

"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...

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Stephen Montgomery @sbmontgom.bsky.social · Apr 25

Huge congrats!!

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Reposted by Stephen Montgomery

Emily Greenwald @emilymbgreenwald.bsky.social · Apr 23

I’m excited to share our paper in @narjournal.bsky.social on DragonRNA: DNA-primed RNA extension! We developed a fluorescence gel shift assay to detect DragonRNA activity by enzymes, & characterized this activity using gel assays, sequencing, & bioinformatics.
academic.oup.com/nar/article/...

DragonRNA: Generality of DNA-primed RNA-extension activities by DNA-directed RNA polymerases

Abstract. RNA polymerases (RNAPs) transcribe DNA into RNA. Several RNAPs, including from bacteriophages Sp6 and T7, Escherichia coli, and wheat germ, had b

academic.oup.com

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Reposted by Stephen Montgomery

American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · Apr 15

Know a colleague, mentor, or early-career researcher committed to elevating the field of #humangenetics and inspiring the next generation? Nominate them for an ASHG 2025 Professional Award! 🎉 Nominations close on May 9. Visit here to apply: www.ashg.org/membership/a... #ASHG

Former ASHG President Bruce D. Gelb (left) with Gail Jarvik, MD, PhD (right), the 2024 ASHG Mentorship Awardee, during the 2024 Annual Meeting in Denver, CO.

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Stephen Montgomery @sbmontgom.bsky.social · Mar 3

Registration deadline coming up. It will be a great meeting.

Wellcome Connecting Science Learning and Training @eventswcs.bsky.social · Feb 17

Join leading experts working in #RareDisease research at our #GRD25 conference.

📅 Dates: 9-11 April 2025
💭 Share insights in person

Explore the latest #genomics advances accelerating improvements in clinical care for rare disorders, globally.

⏰Secure your place by 11 March: bit.ly/3BpAe44

Genomics of Rare Disease (hybrid conference)
Dates: 9-11 April 2025
Location: Hinxton Hall Conference Centre, Wellcome Genome Campus, UK and online

In-person registration deadline: 11 March 2025
Virtual registration deadline: 1 April 2025

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