Doug Fowler

So excited to see you all in Melbourne next year!!!

📣New today! 📄Landscapes of missense variant impact for human superoxide dismutase 1 🧑‍🤝‍🧑 @axakova.bsky.social @fritzroth.bsky.social & co

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

📝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.

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...

‪🗓️ 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...

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

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

🚨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

🚨 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

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

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

Build power, protect science! Thanks @sufsseattle.bsky.social @standupforscience.bsky.social

'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

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!!!

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/...

Coming up in June! You can find more information on our website www.varianteffect.org

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

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

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...

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...

My guidelines for exploratory data analysis

Two days left before the application closes!

#ASHG is delighted to announce the appointment of Kiran Musunuru MD, PhD, as the new Editor-in-Chief of @ajhgnews.bsky.social. Join us in welcoming him ahead of the start of his tenure on January 1, 2026: www.ashg.org/publications... #ASHG

It was great to attend the ACMG clinical genetics meeting for the first time, including a fun session on advances in cardiovascular genomics.

Still processing what this means. www.statnews.com/2025/03/17/t...

📌🗓️ April 1st 2025 ℹ️ www.varianteffect.org/seminar-series #FunctionalGenomics #Seminar with Joyce Kang and Yiyun Rao

⏰❗Today (March 6) is the last day for early bird registration and abstract submission for the Mutational Scanning Symposium #VariantEffect25

🚨 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

Today is #rareDiseaseDay2025 A chance to raise awareness, promote equality, drive progress, and together celebrate the amazing rare disease community, the people living with these conditions, and their carers. To mark the occasion, I want to share a story about this time last year. 🧵 1/8

Mutational Scanning Symposium "Mapping and Modelling Variant Effects at Scale" #VariantEffect25 🗓️ May 21-23, 2025 📍Barcelona (or online) Register soon to receive the early bird rate! ℹ️ www.varianteffect.org/mss2025

'Essential to the practice of precision medicine.' @uwmedicine.bsky.social piece examines BBI's global leadership in creating an atlas of genetic variant effects. @varianteffect.bsky.social @dougfowler.bsky.social @leastarita.bsky.social huddle.uwmedicine.org/mapping-gene...

Check out our updated preprint for MultiSTEP and coagulation Factor IX! This work highlights my most substantial contributions from my tech days in @dougfowler.bsky.social's lab 🧬 www.biorxiv.org/content/10.1...