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Doug Fowler

@dougfowler.bsky.social

Genomics, technology and human genetics @University of Washington. Working to create an atlas of variant effects and resolve VUS.

12 Posts1467 Follower346 Folgt
The American Journal of Human Genetics@ajhgnews.bsky.social · 11mo ago

📣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 ...

cell.com

Nature Reviews Genetics@natrevgenet.nature.com · 11mo ago

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

Renee Geck@reneegeck.bsky.social · 12mo ago

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 ...

biorxiv.org

Sriram Pendyala@treependyala.bsky.social · last yr.

🚨 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

Doug Fowler@dougfowler.bsky.social · last yr.

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…

sciencedirect.com

Doug Fowler@dougfowler.bsky.social · last yr.

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!!!

Brotman Baty Institute@brotmanbaty.bsky.social · last yr.

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

Kresten Lindorff-Larsen@lindorfflarsen.bsky.social · last yr.

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/...

Rasmus Hartmann-Petersen@rhp-lab.bsky.social · last yr.

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.

Nadav Ahituv@nadavahituv.bsky.social · last yr.

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...

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

Joe Marsh@jmarshlab.bsky.social · last yr.

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...

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