Doug Fowler
@dougfowler.bsky.social
Genomics, technology and human genetics @University of Washington. Working to create an atlas of variant effects and resolve VUS.
So excited to see you all in Melbourne next year!!!
The 9th Annual Mutational Scanning Symposium will be held in Melbourne, Australia March 25-27, 2026 🌟 #VariantEffect26
www.mss2026.org Registration will open soon!!!!
www.mss2026.org Registration will open soon!!!!
September 16, 2025 at 9:59 PM
So excited to see you all in Melbourne next year!!!
Reposted by Doug Fowler
📣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
🧑🤝🧑 @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
September 15, 2025 at 4:07 PM
📣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
🧑🤝🧑 @axakova.bsky.social @fritzroth.bsky.social & co
Reposted by Doug Fowler
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
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
September 10, 2025 at 8:51 AM
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
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
Reposted by Doug Fowler
📝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.
September 3, 2025 at 7:03 PM
📝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.
Reposted by Doug Fowler
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
August 15, 2025 at 2:39 PM
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...
Reposted by Doug Fowler
🗓️ 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...
with @nurdankuru.bsky.social (CSHL) @cshlnews.bsky.social
and Ferdy van Geest (ErasmusMC)
#Genetics #RareDisease #MedicalGenetics
ℹ️ www.varianteffect.org/seminar-seri...
August 4, 2025 at 4:18 PM
🗓️ 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...
with @nurdankuru.bsky.social (CSHL) @cshlnews.bsky.social
and Ferdy van Geest (ErasmusMC)
#Genetics #RareDisease #MedicalGenetics
ℹ️ www.varianteffect.org/seminar-seri...
Reposted by Doug Fowler
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
🎧 varianteffect.org/podcast/
#Genetics #RareDisease #VariantEffect #SciencePodcast #PersonalizedMedicine
August 4, 2025 at 4:40 PM
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
🎧 varianteffect.org/podcast/
#Genetics #RareDisease #VariantEffect #SciencePodcast #PersonalizedMedicine
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
July 21, 2025 at 7:34 PM
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
Reposted by Doug Fowler
🚨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
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
June 5, 2025 at 2:47 PM
🚨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
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
Reposted by Doug Fowler
🚨 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.👇
1/9
1/9
July 7, 2025 at 2:44 AM
🚨 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.👇
1/9
1/9
Reposted by Doug Fowler
A reminder in these hard times. #sciencestrong
February 19, 2025 at 6:14 AM
A reminder in these hard times. #sciencestrong
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
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
June 5, 2025 at 3:41 PM
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
TLDR: huge demand for functional data WITH standardization, quality metrics, and better access.
@ajhgnews.bsky.social
shorturl.at/f8N4A
Reposted by Doug Fowler
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
@varianteffect.bsky.social
@uwmedicine.bsky.social
June 2, 2025 at 3:21 PM
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
@varianteffect.bsky.social
@uwmedicine.bsky.social
Build power, protect science! Thanks @sufsseattle.bsky.social @standupforscience.bsky.social
May 18, 2025 at 5:14 PM
Build power, protect science! Thanks @sufsseattle.bsky.social @standupforscience.bsky.social
Reposted by Doug Fowler
'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
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
May 16, 2025 at 4:07 PM
'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
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
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!!!
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
brotmanbaty.org/news/bbis-la...
@varianteffect.bsky.social
@leastarita.bsky.social
@dougfowler.bsky.social
@mehurles.bsky.social
May 15, 2025 at 3:52 PM
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!!!
Reposted by Doug Fowler
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/...
📜 www.biorxiv.org/content/10.1...
🖥️ github.com/KULL-Centre/...
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
May 15, 2025 at 12:44 PM
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/...
📜 www.biorxiv.org/content/10.1...
🖥️ github.com/KULL-Centre/...
Reposted by Doug Fowler
Coming up in June! You can find more information on our website www.varianteffect.org
May 9, 2025 at 10:35 PM
Coming up in June! You can find more information on our website www.varianteffect.org
Reposted by Doug Fowler
Are you or someone you know affected by Hemophilia B? BBI's Drs. Jill Johnsen & Doug Fowler have advanced genetic understandinng of the blood disorder. Learn more.
brotmanbaty.org/news/new-mut...
@uwmedicine.bsky.social
@dougfowler.bsky.social
@hemophilia.bsky.social
brotmanbaty.org/news/new-mut...
@uwmedicine.bsky.social
@dougfowler.bsky.social
@hemophilia.bsky.social
New Mutational Scanning Method Advances Genetic Understanding of Hemophilia B | Brotman Baty Institute
BBI
brotmanbaty.org
May 8, 2025 at 10:13 PM
Are you or someone you know affected by Hemophilia B? BBI's Drs. Jill Johnsen & Doug Fowler have advanced genetic understandinng of the blood disorder. Learn more.
brotmanbaty.org/news/new-mut...
@uwmedicine.bsky.social
@dougfowler.bsky.social
@hemophilia.bsky.social
brotmanbaty.org/news/new-mut...
@uwmedicine.bsky.social
@dougfowler.bsky.social
@hemophilia.bsky.social
Reposted by Doug Fowler
ACTION ITEM-----ACTION ITEM
Implementation of Schedule F
This is what a lot of us have been worried about.
This allows for many civil service positions to replaced with political appointees. This could include NIH institute directors and even POs.
BUT THERE IS A COMMENT PERIOD...
1/n
Implementation of Schedule F
This is what a lot of us have been worried about.
This allows for many civil service positions to replaced with political appointees. This could include NIH institute directors and even POs.
BUT THERE IS A COMMENT PERIOD...
1/n
the word alert is in a purple circle
ALT: the word alert is in a purple circle
media.tenor.com
April 23, 2025 at 6:03 PM
ACTION ITEM-----ACTION ITEM
Implementation of Schedule F
This is what a lot of us have been worried about.
This allows for many civil service positions to replaced with political appointees. This could include NIH institute directors and even POs.
BUT THERE IS A COMMENT PERIOD...
1/n
Implementation of Schedule F
This is what a lot of us have been worried about.
This allows for many civil service positions to replaced with political appointees. This could include NIH institute directors and even POs.
BUT THERE IS A COMMENT PERIOD...
1/n
Reposted by Doug Fowler
MPRAbase (mprabase.ucsf.edu) , a customized database for massively parallel reporter assays (MPRAs) to easily find and download MPRA data. Amazing work by Jingjing Zhao, Fotis Baltoumas, Georgios Pavlopoulos, @vagar.bsky.social, ilias Georgakopoulos-Soares & others.
genome.cshlp.org/content/earl...
genome.cshlp.org/content/earl...
MPRAbase a Massively Parallel Reporter Assay database
An international, peer-reviewed genome sciences journal featuring outstanding original research that offers novel insights into the biology of all organisms
genome.cshlp.org
April 22, 2025 at 8:51 PM
MPRAbase (mprabase.ucsf.edu) , a customized database for massively parallel reporter assays (MPRAs) to easily find and download MPRA data. Amazing work by Jingjing Zhao, Fotis Baltoumas, Georgios Pavlopoulos, @vagar.bsky.social, ilias Georgakopoulos-Soares & others.
genome.cshlp.org/content/earl...
genome.cshlp.org/content/earl...
Reposted by Doug Fowler
New paper out in Genome Biology! 🎉
We lay out best-practice guidelines for releasing variant effect predictors, developed through the Atlas of Variant Effects Alliance @varianteffect.bsky.social
Open, interpretable, and clinically useful VEPs are the goal.
📄 doi.org/10.1186/s130...
We lay out best-practice guidelines for releasing variant effect predictors, developed through the Atlas of Variant Effects Alliance @varianteffect.bsky.social
Open, interpretable, and clinically useful VEPs are the goal.
📄 doi.org/10.1186/s130...
Guidelines for releasing a variant effect predictor - Genome Biology
Computational methods for assessing the likely impacts of mutations, known as variant effect predictors (VEPs), are widely used in the assessment and interpretation of human genetic variation, as well...
doi.org
April 15, 2025 at 12:24 PM
New paper out in Genome Biology! 🎉
We lay out best-practice guidelines for releasing variant effect predictors, developed through the Atlas of Variant Effects Alliance @varianteffect.bsky.social
Open, interpretable, and clinically useful VEPs are the goal.
📄 doi.org/10.1186/s130...
We lay out best-practice guidelines for releasing variant effect predictors, developed through the Atlas of Variant Effects Alliance @varianteffect.bsky.social
Open, interpretable, and clinically useful VEPs are the goal.
📄 doi.org/10.1186/s130...
Reposted by Doug Fowler
My guidelines for exploratory data analysis
April 14, 2025 at 8:11 PM
My guidelines for exploratory data analysis
Reposted by Doug Fowler
Two days left before the application closes!
🚨 We're hiring! 🚨 The Ewald Lab at EMBL-EBI is looking for a postdoctoral researcher in multi-omics, machine learning, and predictive toxicology to analyze a groundbreaking toxicology dataset as part of the OASIS Consortium.
More details & application here: lnkd.in/eHD7DMdX
More details & application here: lnkd.in/eHD7DMdX
March 31, 2025 at 1:49 PM
Two days left before the application closes!