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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.

29 Posts567 Follower122 Folgt
GREGoR Consortium@gregor-research.bsky.social · 11mo ago

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.

nature.com

Ben Strober@bennystrobes.bsky.social · last yr.

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

Michael Love@mikelove.bsky.social · last yr.

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...

biorxiv.org

Tim Coorens@timcoorens.bsky.social · last yr.

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.

nature.com

Yoav Gilad@ygilad.bsky.social · last yr.

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.

Tami Gjorgjieva@tamigj.bsky.social · last yr.

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 · last yr.

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.
Cedric Boeckx@cedricboeckx.bsky.social · last yr.

“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. ...

biorxiv.org

Emily Greenwald@emilymbgreenwald.bsky.social · last yr.

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

Stephen Montgomery@sbmontgom.bsky.social · 2y ago

"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."

Andrew Marderstein@amarderstein.bsky.social · 2y ago

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...

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...

biorxiv.org