Stephen Montgomery @sbmontgom.bsky.social · 15/04/2026Also, I am chairing the committee and if you have frustrations, you can always send me an email. 000
Stephen Montgomery @sbmontgom.bsky.social · 15/04/2026I hope you consider nominating a colleague this year for the ASHG awards apply.ashg.org/a/page/awards Deadline is April 17, 2026 There is a new system this year that aims to standardize the information the Awards committee collects. Please keep that in mind 110
Reposted by Stephen MontgomeryDavid A Knowles @davidaknowles.bsky.social · 02/04/2026@nygenome.org is hiring Genomic AI Fellows! (fancy postdoc positions) If you're interested in working at the interface of AI and genomics in a great environment please apply at: jobs.silkroad.com/NYGenome/Car...jobs.silkroad.comNYGC Genomic AI Fellows - 101 Avenue of the Americas, 7th Floor, New York, New York - New York Genome CenterFind a career with New York Genome Center 01515
Reposted by Stephen MontgomeryKate (Kathryn) Lawrence @itskatelawrence.bsky.social · 23/03/2026It's out! I hope this work encourages folks to move beyond a standard "one variant, one gene" QTL paradigm and consider proxitropic variant effects. Big thanks to the reviewers and editors at @ajhgnews.bsky.social for their help! @sbmontgom.bsky.social www.sciencedirect.com/science/arti... 23113
Stephen Montgomery @sbmontgom.bsky.social · 01/04/2026I agree with your take. At first I had the expected reaction. But this is actually probably more realistic and fair. Since now it isn't just standing members that can get an extension, 2 weeks is probably realistic in terms of impact, and it looks like more application types are considered. 000
Stephen Montgomery @sbmontgom.bsky.social · 11/01/2026Further, as a regular grant reviewer, I am always looking for the thing that is paradigm changing and new too. As are my colleagues. 000
Stephen Montgomery @sbmontgom.bsky.social · 11/01/2026I 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. 100
Stephen Montgomery @sbmontgom.bsky.social · 11/01/2026I 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. 110
Reposted by Stephen MontgomeryNicolas Robine 🇪🇺🇫🇷🇺🇸 @nicorobine.bsky.social · 08/01/2026"Illumina Appoints Former NHGRI Director Eric Green as Chief Medical Officer" www.genomeweb.com/sequencing/i...genomeweb.comIllumina Appoints Former NHGRI Director Eric Green as Chief Medical OfficerGreen, whose tenure as NHGRI director was terminated earlier this year, will take up his new post on Feb. 2. 1165
Stephen Montgomery @sbmontgom.bsky.social · 08/01/2026I was reviewer 3. I can send you my review. 010
Stephen Montgomery @sbmontgom.bsky.social · 08/01/2026I 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.. 040
Reposted by Stephen MontgomeryGREGoR Consortium @gregor-research.bsky.social · 12/11/2025New 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...nature.comGREGoR: accelerating genomics for rare diseases - NatureThe GREGoR consortium provides foundational resources and substrates for the future of rare disease genomics. 0118
Stephen Montgomery @sbmontgom.bsky.social · 12/11/2025Read 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...nature.comGREGoR: accelerating genomics for rare diseases - NatureThe GREGoR consortium provides foundational resources and substrates for the future of rare disease genomics. 023
Reposted by Stephen MontgomeryBen Strober @bennystrobes.bsky.social · 07/10/2025Exciting 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.comstroberlab.comStrober LabThe 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... 02910
Reposted by Stephen MontgomeryGREGoR Consortium @gregor-research.bsky.social · 19/09/2025Thank you to all our members and collaborators for an inspiring and productive @gregor-research.bsky.social meeting last week in San Diego! ☀️🧬 #RareDisease #Research 073
Stephen Montgomery @sbmontgom.bsky.social · 18/08/2025I'd reckon that a good amount of news articles would benefit from a few scientists doing peer and editorial review. 020
Reposted by Stephen MontgomeryMichael Love @mikelove.bsky.social · 18/08/2025Excited 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...biorxiv.orgHigher eQTL power reveals signals that boost GWAS colocalizationExpression 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... 46624
Reposted by Stephen MontgomeryAmerican Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 29/07/2025🚨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 014
Reposted by Stephen MontgomeryTim Coorens @timcoorens.bsky.social · 03/07/2025The 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.comnature.comThe Somatic Mosaicism across Human Tissues Network - NatureThe Somatic Mosaicism across Human Tissues Network aims to create a reference catalogue of somatic mosaicism across different tissues and cells within individuals. 1349
Reposted by Stephen MontgomeryYoav Gilad @ygilad.bsky.social · 10/06/2025People 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. 35814
Stephen Montgomery @sbmontgom.bsky.social · 10/06/2025In 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. 010
Reposted by Stephen MontgomeryTami Gjorgjieva @tamigj.bsky.social · 09/06/2025What 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: 1101
Reposted by Stephen MontgomeryKate (Kathryn) Lawrence @itskatelawrence.bsky.social · 08/06/2025Excited 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”? 🧵 ⬇️ 69031
Reposted by Stephen MontgomeryCedric Boeckx @cedricboeckx.bsky.social · 07/06/2025“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...biorxiv.orgFocus on single gene effects limits discovery and interpretation of complex trait-associated variantsStandard 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. ... 14216
Reposted by Stephen MontgomeryHuman Genetics and Genomics Advances @hggadvances.bsky.social · 02/06/2025📣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 061
Reposted by Stephen MontgomeryMichel Nivard @michelnivard.bsky.social · 19/05/2025This 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 23318
Reposted by Stephen MontgomeryBen Lehner @benlehner.bsky.social · 06/05/2025Come 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! 14566
Stephen Montgomery @sbmontgom.bsky.social · 06/05/2025Auditoriums that don't allow people to bring in coffee. 010
Reposted by Stephen MontgomeryTuuli Lappalainen @tuuliel.bsky.social · 06/05/2025Our 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... 19842
Reposted by Stephen MontgomeryAmerican Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 05/05/2025⏳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 053
Reposted by Stephen MontgomeryAmerican Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 02/05/2025"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... 052
Reposted by Stephen MontgomeryEmily Greenwald @emilymbgreenwald.bsky.social · 24/04/2025I’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.comDragonRNA: Generality of DNA-primed RNA-extension activities by DNA-directed RNA polymerasesAbstract. RNA polymerases (RNAPs) transcribe DNA into RNA. Several RNAPs, including from bacteriophages Sp6 and T7, Escherichia coli, and wheat germ, had b 171
Reposted by Stephen MontgomeryAmerican Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 15/04/2025Know 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 022
Stephen Montgomery @sbmontgom.bsky.social · 03/03/2025Registration deadline coming up. It will be a great meeting. 001
Stephen Montgomery @sbmontgom.bsky.social · 21/02/2025The effort people put in to write grants is enormous and this is just terrible. 000
Stephen Montgomery @sbmontgom.bsky.social · 21/02/2025"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." 122
Reposted by Stephen MontgomeryScott_Boyd_Lab_Stanford @scottboydlab.bsky.social · 21/02/2025Attempting 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 14815
Reposted by Stephen MontgomeryAndrew Marderstein @amarderstein.bsky.social · 19/02/2025New 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...biorxiv.orgMapping the regulatory effects of common and rare non-coding variants across cellular and developmental contexts in the brain and heartWhole 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... 03117
Stephen Montgomery @sbmontgom.bsky.social · 14/02/2025I hope you are ok. All of this is terrible. 010
Stephen Montgomery @sbmontgom.bsky.social · 08/02/2025@onsummertime.bsky.social what would be a reasonable mix of federal support to endowment support for a university's operating budget? 000
Stephen Montgomery @sbmontgom.bsky.social · 08/02/2025when they close labs as a stopgap, will you donate to my gofundme? 100
Reposted by Stephen MontgomeryJacob Schreiber @jmschreiber91.bsky.social · 22/01/2025Multiscale footprints reveal the organization of cis-regulatory elements www.nature.com/articles/s41...nature.comMultiscale footprints reveal the organization of cis-regulatory elements - NatureWe developed PRINT, a computational method that identifies footprints of DNA–protein interactions from bulk and single-cell chromatin accessibility data across multiple scales of protein size. 04014