Stephen Montgomery
@sbmontgom.bsky.social
Stephen Montgomery. Stanford Medicine Professor of Pathology, Genetics, Biomedical Data Science and, by courtesy, Computer Science.
Sporadic on social media.
Sporadic on social media.
Reposted by Stephen Montgomery
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...
🧬 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.
www.nature.com
November 12, 2025 at 11:09 PM
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...
🧬 www.nature.com/articles/s41...
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...
GREGoR: accelerating genomics for rare diseases - Nature
The GREGoR consortium provides foundational resources and substrates for the future of rare disease genomics.
www.nature.com
November 12, 2025 at 4:59 PM
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...
Reposted by Stephen Montgomery
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
(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
October 7, 2025 at 6:55 PM
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
(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
Reposted by Stephen Montgomery
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
#RareDisease #Research
September 19, 2025 at 9:15 PM
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
#RareDisease #Research
Reposted by Stephen Montgomery
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...
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
August 18, 2025 at 12:18 PM
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...
www.biorxiv.org/content/10.1...
Reposted by Stephen Montgomery
🚨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
💥Full list & details: www.ashg.org/membership/a...
#ASHG #HumanGenetics
July 29, 2025 at 2:30 PM
🚨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
💥Full list & details: www.ashg.org/membership/a...
#ASHG #HumanGenetics
Reposted by Stephen Montgomery
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
July 3, 2025 at 2:29 PM
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
Reposted by Stephen Montgomery
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.
(For the record, no one has ever asked me this, but it is a really good question!)
I think we know where they are.
June 10, 2025 at 2:20 PM
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.
(For the record, no one has ever asked me this, but it is a really good question!)
I think we know where they are.
Reposted by Stephen Montgomery
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:
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”? 🧵 ⬇️
June 9, 2025 at 5:14 PM
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:
Reposted by Stephen Montgomery
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”? 🧵 ⬇️
June 8, 2025 at 5:39 PM
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”? 🧵 ⬇️
Reposted by Stephen Montgomery
“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...
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
June 7, 2025 at 10:46 AM
“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...
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...
Reposted by Stephen Montgomery
📣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
📄Transcriptomic signatures of rare variant impacts across sex and the X-chromosome
🧑🤝🧑 @raungar.bsky.social @sbmontgom.bsky.social & co
👉https://bit.ly/4kmWc8Z
June 2, 2025 at 3:44 PM
📣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
📄Transcriptomic signatures of rare variant impacts across sex and the X-chromosome
🧑🤝🧑 @raungar.bsky.social @sbmontgom.bsky.social & co
👉https://bit.ly/4kmWc8Z
Reposted by Stephen Montgomery
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
May 19, 2025 at 1:00 PM
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...
Reposted by Stephen Montgomery
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!
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!
May 6, 2025 at 2:59 PM
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!
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.
May 6, 2025 at 5:11 PM
Auditoriums that don't allow people to bring in coffee.
Reposted by Stephen Montgomery
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...
www.biorxiv.org/content/10.1...
May 6, 2025 at 5:01 PM
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...
www.biorxiv.org/content/10.1...
Reposted by Stephen Montgomery
⏳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
May 5, 2025 at 9:07 PM
⏳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
Reposted by Stephen Montgomery
"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...
May 2, 2025 at 6:44 PM
"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...
Reposted by Stephen Montgomery
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/...
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
April 23, 2025 at 11:35 PM
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/...
academic.oup.com/nar/article/...
Reposted by Stephen Montgomery
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
April 15, 2025 at 5:03 PM
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
Registration deadline coming up. It will be a great meeting.
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
📅 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
March 3, 2025 at 9:49 PM
Registration deadline coming up. It will be a great meeting.
"Dear GHD Reviewer – I want to share the news that the GHD Meeting scheduled for Monday and Tuesday, February 24-25, 2025, will not occur on these dates. It is being postponed to later dates, to be determined. This is because the meeting has not yet posted in the Federal Register."
February 21, 2025 at 9:07 PM
"Dear GHD Reviewer – I want to share the news that the GHD Meeting scheduled for Monday and Tuesday, February 24-25, 2025, will not occur on these dates. It is being postponed to later dates, to be determined. This is because the meeting has not yet posted in the Federal Register."
Reposted by Stephen Montgomery
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
📅 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
February 17, 2025 at 1:22 PM
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
📅 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
Reposted by Stephen Montgomery
Attempting to read the language of B cell and T cell receptor sequences to diagnose immunological diseases:
Our new paper, led by the outstanding Maxim Zaslavsky @maximzaslavsky.bsky.social sky.bsky.social with help from me and Anshul Kundaje @anshulkundaje.bsky.social.
Link: buff.ly/3QvxSVf
Our new paper, led by the outstanding Maxim Zaslavsky @maximzaslavsky.bsky.social sky.bsky.social with help from me and Anshul Kundaje @anshulkundaje.bsky.social.
Link: buff.ly/3QvxSVf
February 21, 2025 at 1:26 PM
Attempting to read the language of B cell and T cell receptor sequences to diagnose immunological diseases:
Our new paper, led by the outstanding Maxim Zaslavsky @maximzaslavsky.bsky.social sky.bsky.social with help from me and Anshul Kundaje @anshulkundaje.bsky.social.
Link: buff.ly/3QvxSVf
Our new paper, led by the outstanding Maxim Zaslavsky @maximzaslavsky.bsky.social sky.bsky.social with help from me and Anshul Kundaje @anshulkundaje.bsky.social.
Link: buff.ly/3QvxSVf
Reposted by Stephen Montgomery
New preprint w/ @soumyakundu.bsky.social @sbmontgom.bsky.social @anshulkundaje.bsky.social !
Using deep learning & scATAC-seq, we studied context-specific variants in disease & evolution, and introduce FLARE for de novo mutations—w/ application to autism-affected families.
doi.org/10.1101/2025...
Using deep learning & scATAC-seq, we studied context-specific variants in disease & evolution, and introduce FLARE for de novo mutations—w/ application to autism-affected families.
doi.org/10.1101/2025...
Mapping the regulatory effects of common and rare non-coding variants across cellular and developmental contexts in the brain and heart
Whole genome sequencing has identified over a billion non-coding variants in humans, while GWAS has revealed the non-coding genome as a significant contributor to disease. However, prioritizing causal...
www.biorxiv.org
February 19, 2025 at 1:32 PM
New preprint w/ @soumyakundu.bsky.social @sbmontgom.bsky.social @anshulkundaje.bsky.social !
Using deep learning & scATAC-seq, we studied context-specific variants in disease & evolution, and introduce FLARE for de novo mutations—w/ application to autism-affected families.
doi.org/10.1101/2025...
Using deep learning & scATAC-seq, we studied context-specific variants in disease & evolution, and introduce FLARE for de novo mutations—w/ application to autism-affected families.
doi.org/10.1101/2025...