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sbmontgom.bsky.social
Stephen Montgomery. Stanford Medicine Professor of Pathology, Genetics, Biomedical Data Science and, by courtesy, Computer Science.
16 posts 488 followers 105 following
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Posts 18 Comments 12

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...

submitted 12 days ago • 2 comments

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!

submitted 25 days ago • 1 comment

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

submitted 25 days ago • 0 comments

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...

submitted 25 days ago • 1 comment

⏳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

submitted 26 days ago • 0 comments

"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...

submitted 29 days ago • 0 comments

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/...

submitted 38 days ago • 1 comment

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

submitted 46 days ago • 0 comments

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

submitted 89 days ago • 0 comments

"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."

submitted 99 days ago • 1 comment

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

submitted 103 days ago • 0 comments

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

submitted 99 days ago • 1 comment

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...

submitted 101 days ago • 0 comments

Multiscale footprints reveal the organization of cis-regulatory elements www.nature.com/articles/s41...

submitted 129 days ago • 0 comments

Our new perspective article describing the human and non-human primate developmental GTEx projects is now out in @nature.com! We outline the scope, vision, opportunities and challenges of these projects here: www.nature.com/articles/s41...

submitted 136 days ago • 1 comment

What if one variant can cause splicing outliers transcriptome-wide? In our preprint, we show how examining transcriptome-wide patterns of splicing outliers can both diagnose individuals with rare spliceopathies and uncover novel disease-gene relationships! (www.medrxiv.org/content/10.1...)

submitted 144 days ago • 1 comment

🚨 Excited to announce the Marker paper for the GREGoR Consortium! arxiv.org/abs/2412.14338 Accelerating #RareDisease diagnostics with cutting-edge #Genomics and global data sharing of omics and deep phenotyping from ~7500 individuals on NHGRI AnVIL and much more to come! 🧬

submitted 163 days ago • 1 comment

GREGoR Consortium preprint online! With the R02 release, there is a huge amount of genomics, multi-omics and phenotype data from the hardest-to-solve rare disease cases.

submitted 163 days ago • 0 comments