dougfowler.bsky.social
Doug Fowler
@dougfowler.bsky.social
1.4K followers 340 following 12 posts
Genomics, technology and human genetics @University of Washington. Working to create an atlas of variant effects and resolve VUS.
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dougfowler.bsky.social
Doug Fowler @dougfowler.bsky.social · 22d
So excited to see you all in Melbourne next year!!!
varianteffect.bsky.social
Atlas of Variant Effects Alliance @varianteffect.bsky.social · 23d
The 9th Annual Mutational Scanning Symposium will be held in Melbourne, Australia March 25-27, 2026 🌟 #VariantEffect26
www.mss2026.org Registration will open soon!!!!
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Reposted by Doug Fowler
ajhgnews.bsky.social
The American Journal of Human Genetics @ajhgnews.bsky.social · 23d
📣New today!
📄Landscapes of missense variant impact for human superoxide dismutase 1
🧑‍🤝‍🧑 @axakova.bsky.social @fritzroth.bsky.social & co
Landscapes of missense variant impact for human superoxide dismutase 1
SOD1 variants cause the motor neuron disease amyotrophic lateral sclerosis. Axakova et al. functionally assay ∼86% of all possible SOD1 missense variants, producing a variant-effect map resource that ...
www.cell.com
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Reposted by Doug Fowler
natrevgenet.nature.com
Nature Reviews Genetics @natrevgenet.nature.com · 28d
Interested in using MAVEs for variant classification?

Read our review by Abbye E. McEwen, Malvika Tejura, @shawnfayer.bsky.social, @leastarita.bsky.social & @dougfowler.bsky.social:
Multiplexed assays of variant effect for clinical variant interpretation
go.nature.com/3IdCfUb
rdcu.be/eFmll
Multiplexed assays of variant effect for clinical variant interpretation - Nature Reviews Genetics
Multiplexed assays of variant effect (MAVEs) are highly scalable experimental approaches used to generate functional data for genetic variants. In this Review, McEwen et al. discuss the advances in MA...
go.nature.com
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Reposted by Doug Fowler
amglazer.bsky.social
Andrew Glazer @amglazer.bsky.social · Sep 3
📝Check out our review “Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine”, out in @natrevcardiol.nature.com. We review the use of Multiplexed Assays of Variant Effect and variant effect predictors in cardiovascular disease.
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Reposted by Doug Fowler
reneegeck.bsky.social
Renee Geck @reneegeck.bsky.social · Aug 15
It's been a long time coming but, my postdoc work characterizing thousands of variants in G6PD is now available! Many thanks to @maitreya.bsky.social @dougfowler.bsky.social @afrubin.bsky.social and their labs! www.biorxiv.org/content/10.1...
Functional evidence for G6PD variant classification from mutational scanning
G6PD deficiency is the most common enzyme deficiency worldwide, and increases the likelihood of adverse reactions to certain drugs and foods. Identifying people at risk is challenging, since most are ...
www.biorxiv.org
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Reposted by Doug Fowler
varianteffect.bsky.social
Atlas of Variant Effects Alliance @varianteffect.bsky.social · Aug 4
‪🗓️ Join us tomorrow! August 5
with @nurdankuru.bsky.social (CSHL) @cshlnews.bsky.social
and Ferdy van Geest (ErasmusMC)
#Genetics #RareDisease #MedicalGenetics
ℹ️ www.varianteffect.org/seminar-seri...
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Reposted by Doug Fowler
varianteffect.bsky.social
Atlas of Variant Effects Alliance @varianteffect.bsky.social · Aug 4
Ever wondered how your genes shape your health? Dive into the Variants and Us (VUS) Podcast—where cutting-edge science meets real-world impact.
🎧 varianteffect.org/podcast/
#Genetics #RareDisease #VariantEffect #SciencePodcast #PersonalizedMedicine
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dougfowler.bsky.social
Doug Fowler @dougfowler.bsky.social · Jul 21
Interested in using functional data to understand clinical variants? Been hunting for a good review of the topic? We just wrote one! rdcu.be/exaEU
Multiplexed assays of variant effect for clinical variant interpretation
Nature Reviews Genetics - Multiplexed assays of variant effect (MAVEs) are highly scalable experimental approaches used to generate functional data for genetic variants. In this Review, McEwen et...
www.nature.com
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Reposted by Doug Fowler
ajhgnews.bsky.social
The American Journal of Human Genetics @ajhgnews.bsky.social · Jun 5
🚨In this issue🚨
A trio of papers provide key insights for integrating functional data into clinical variant interpretation
#MAVE #VUS
@dougfowler.bsky.social @clareturnbull.bsky.social @leastarita.bsky.social @gregfindlay.bsky.social @afrubin.bsky.social
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Reposted by Doug Fowler
treependyala.bsky.social
Sriram Pendyala @treependyala.bsky.social · Jul 7
🚨 Most variant screens measure growth or abundance. What do they miss? That variants impact a spectrum of protein and cellular phenotypes. Variant in situ sequencing (VIS-seq) finds what’s missing: image cells 🔬 first, decode later, revealing multi-scale phenotypes for thousands of variants.👇

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Reposted by Doug Fowler
redpenblackpen.bsky.social
RedPen/BlackPen @redpenblackpen.bsky.social · Feb 19
A reminder in these hard times. #sciencestrong
Cartoon showing a woman looking in to a microscope saying "Whoaah!!!" The caption states "The best part of Science is knowing, for a moment, something that nobody else in the world knows"
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dougfowler.bsky.social
Doug Fowler @dougfowler.bsky.social · Jun 5
Exciting recent work from colleagues @leastarita.bsky.social and Andrew Stergachis surveying clinical variant interpreters on the use of functional data!

TLDR: huge demand for functional data WITH standardization, quality metrics, and better access.

@ajhgnews.bsky.social
shorturl.at/f8N4A
Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretation
Variant-level functional data are a core component of clinical variant classification and can aid in reinterpreting variants of uncertain significance…
www.sciencedirect.com
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Reposted by Doug Fowler
brotmanbaty.bsky.social
Brotman Baty Institute @brotmanbaty.bsky.social · Jun 2
TOMORROW - June 3 - at 9 AM - The Variant Effects Seminar Series will feature Ben Li (U of Michigan) & Vahid Aslanzadeh (U of Edinburgh) Details: www.varianteffect.org/seminar-seri...
@varianteffect.bsky.social
@uwmedicine.bsky.social
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dougfowler.bsky.social
Doug Fowler @dougfowler.bsky.social · May 18
Build power, protect science! Thanks @sufsseattle.bsky.social @standupforscience.bsky.social
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Reposted by Doug Fowler
brotmanbaty.bsky.social
Brotman Baty Institute @brotmanbaty.bsky.social · May 16
'Science can feel like magic. When you begin to understand how and why things work, it’s incredible.'
Learn more about Katie Partington, an 'intellectually adventurous' promising young scientist in the lab of BBI's Dr. Doug Fowler.
brotmanbaty.org/news/promisi...
@dougfowler.bsky.social
@hmc.edu
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dougfowler.bsky.social
Doug Fowler @dougfowler.bsky.social · May 15
So excited for and proud of @muffley.bsky.social!!! Since she joined our team, she's accomplished the impossible, knitting together international collaborations, empowering our team and making everything sing. We're so lucky to work with her!!!
brotmanbaty.bsky.social
Brotman Baty Institute @brotmanbaty.bsky.social · May 13
HUGE congrats Lara Muffley - honored w/ UW Distinguished Staff Award for Collaboration - advancing world-class research on genetic variants on behalf of BBI
brotmanbaty.org/news/bbis-la...
@varianteffect.bsky.social
@leastarita.bsky.social
@dougfowler.bsky.social
@mehurles.bsky.social
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dougfowler.bsky.social
Doug Fowler @dougfowler.bsky.social · May 15
Thanks to @cegs-cmap.bsky.social @brotmanbaty.bsky.social @chanzuckerberg.bsky.social and others for support!!!

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dougfowler.bsky.social
Doug Fowler @dougfowler.bsky.social · May 15
@danweihuangfu.bsky.social @benlehner.bsky.social ner.bsky.social @travelingeneticist.bsky.social @anneotation.bsky.social sky.social @poseypod.bsky.social ky.social @leastarita.bsky.social starita.bsky.social @hyejungwon.bsky.social won.bsky.social @heidirehm.bsky.social

And many others!!!

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ner.bsky.social
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dougfowler.bsky.social
Doug Fowler @dougfowler.bsky.social · May 15
Thanks to all who attended the meeting and worked on the ideas! @mehurles.bsky.social @davidjadams.bsky.social @muffley.bsky.social @ewanbirney.bsky.social @nadavahituv.bsky.social @bennibolo.bsky.social @johndoench.bsky.social @ee-reh-neh.bsky.social @amglazer.bsky.social

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dougfowler.bsky.social
Doug Fowler @dougfowler.bsky.social · May 15
The roadmap lays out how we get there, with heaps of data production, amazing new technologies, international coordination and clinical implementation

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dougfowler.bsky.social
Doug Fowler @dougfowler.bsky.social · May 15
We came up with 2 key goals for 2030:

-resolve variants of uncertain significance ~1000 high need genes using at-scale variant effect experiments and models

-measuring the full stack of molecular and cellular phenotypes associated with disease-causing variants in a smaller set of genes

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dougfowler.bsky.social
Doug Fowler @dougfowler.bsky.social · May 15
Last year, we convened a group of researchers, clinicians and others in Pittsburgh to craft a plan to measure and model the effects of all possible variants in human genes and regulatory regions

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dougfowler.bsky.social
Doug Fowler @dougfowler.bsky.social · May 15
Our "Atlas of Variant Effects 2030 Roadmap" is live: zenodo.org/records/1542...

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Atlas of Variant Effects 2030 Roadmap: resolving human variants of uncertain significance
At the Clinical Atlas of Variant Effects meeting (CLAVE meeting, July 2024, Pittsburgh USA), we developed recommendations for a draft atlas that can be realized by 2030, with a focus on empowering gen...
zenodo.org
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Reposted by Doug Fowler
lindorfflarsen.bsky.social
Kresten Lindorff-Larsen @lindorfflarsen.bsky.social · May 15
Led by @vvouts.bsky.social in @rhp-lab.bsky.social, we measured the degron potency of >200,000 30-residue tiles from >5,000 cytosolic human proteins and trained an ML model for degrons

📜 www.biorxiv.org/content/10.1...
🖥️ github.com/KULL-Centre/...
rhp-lab.bsky.social
Rasmus Hartmann-Petersen @rhp-lab.bsky.social · May 15
In collaboration with the @lindorfflarsen.bsky.social group we release our map of degrons in >5,000 human cytosolic proteins with >99% coverage. A machine learning model trained on the data identifies missense variants forming degrons in exposed & disordered regions. Work led by @vvouts.bsky.social.
A complete map of human cytosolic degrons and their relevance for disease
Degrons are short protein segments that target proteins for degradation via the ubiquitin-proteasome system and thus ensure timely removal of signaling proteins and clearance of misfolded proteins fro...
www.biorxiv.org
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Reposted by Doug Fowler
varianteffect.bsky.social
Atlas of Variant Effects Alliance @varianteffect.bsky.social · May 9
Coming up in June! You can find more information on our website www.varianteffect.org
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