Atlas of Variant Effects Alliance

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

‪🗓️ 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...

🧬 Interested in variant interpretation?
#FunctionalGenomics #Pharmacogenetics #MutationalScanning #VariantEffectPredictor #RareDisease #Collaboration #PrecisionMedicine
Check out our list of publications!
📖 www.varianteffect.org/publications/

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...

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

The image is a poster for the "Variant Effects Seminar Series" dated August 5th, 2025. The top section is a blue header with white, bold text indicating the seminar series name and date. Below, the time for different time zones is given: 9-10 am (PACIFIC), 12-1 pm (EASTERN), and 5-6 pm (GMT). On the left side of the poster, a vertical DNA helix graphic in black is visible. To the right, there are two circular photographs of speakers with talk titles.

Coming up on August 5 🗓️
Nurdan Kuru @nurdankuru.bsky.social shares phylogeny-aware methods for variant effect prediction.
Ferdy van Geest dives into MCT8 variants & thyroid disease. Computational meets clinical! #Genetics #RareDisease #MedicalGenetics ℹ️ www.varianteffect.org/seminar-seri...

More information and to listen visit>> www.varianteffect.org/podcast/

The image is a banner for a podcast episode set against a gradient background that transitions from dark to light golden brown from left to right. On the left side, there is an illustration of a library with bookshelves filled with books. A person with dark hair, wearing a light-colored lab coat, stands in front of the shelves, examining a book titled "Interpretation of Human Variants." Other book titles visible on the shelves include "Human Variants," "Experimental Results," "Genomic Data," and "Biocuration." An open book and a notebook are placed on a wooden table in the foreground, along with a flask and a computer monitor displaying data. A semi-transparent DNA double helix is depicted connecting the books. On the right side of the image, text reads: "New Podcast Episode" in small font beside a blue dot, followed by the large text "Biocuration: from Evidence to Classification." Below, smaller text says "Variants and Us (VUS) Podcast."

🎧 New Episode! 🧬 "Biocuration: From Evidence to Classification" Interviews w/ @heidirehm.bsky.social @broadinstitute.org & Courtney Thaxton #ClinGen
#Genomics #Biocuration #SciencePodcast #PrecisionMedicine

Happening tomorrow (July 1st) Hope you can join us! www.varianteffect.org/seminar-seri...

We are hopeful that this advance will allow for MAVE data to be more readily applied throughout human genomics research. 🧵 3/3

In the manuscript, we describe how we were able to map MAVE data from MaveDB to the human genome, enabling dissemination to several downstream resources including the UCSC Genome Browser and Ensembl Variant Effect Predictor. 🧵 2/3

Mapping MAVE data for use in human genomics applications - Genome Biology Background Experimental data from functional assays have a critical role in interpreting the impact of genetic variants. Assay data must be unambiguously mapped to a reference genome to make it access...

We are pleased to announce the publication of our manuscript "Mapping MAVE data for use in human genomics applications" in Genome Biology! 🧵 1/3 genomebiology.biomedcentral.com/articles/10....

We have co-organized a MAVE course with Wellcome Connecting Science! Meeting is in November, but the
🗓️📝Application deadline is 18 August 2025 ⏰https://coursesandconferences.wellcomeconnectingscience.org/event/multiplex-assays-of-variant-effects-maves-approaches-analysis-and-interpretation-20251123/

We’ve got two exciting VESS speakers lined up for July 1 🤩
🎙️Daniel Zimmerman postdoc @pittdeptofmed.bsky.social
🎙️Frederik Filip Vinggaard Stæger @ffstaeger.bsky.social postdoc at Univ. of Copenhagen
Info + Zoom link: varianteffect.org/seminar-series
#Genetics #MedicalGenetics #FunctionalGenomics

Fig. 1: MultiSTEP enables at-scale measurement of variant effects in secreted proteins. a, Secreted proteins make up approximately 10% of the human proteome. b, Cumulative number of missense variants in secreted proteins deposited in ClinVar from 2016 to 2023, colored by clinical interpretation. c, MultiSTEP retains secreted proteins on the cell surface, establishing a physical link between genotype and phenotype (left). Cells expressing a library of variants of the target protein are sorted into bins based upon intensity of fluorescent antibody binding, followed by deep sequencing to derive a functional score for each individual variant (middle). The result is a variant effect map (right). d, MultiSTEP design. Secreted protein-coding sequences (Sec Pro) are cloned into an attB-containing landing pad donor plasmid containing a unique degenerate barcode (BC). Secreted proteins are engineered to have C-terminally fused (GGGGS)2 flexible linkers (L1 and L2) attached to a single-pass transmembrane (TM) domain. In between the linkers is a Strep II epitope tag for surface detection (St). The construct contains an internal ribosomal entry site (IRES), driving co-transcription of an mCherry fluorophore that serves as a transcriptional control. e–g, Flow cytometry of known well-secreted (p.A37T, p.S220T, WT) and poorly secreted (p.C28Y) FIX variants displayed using MultiSTEP (n ~ 30,000 cells per variant). Unrecombined cells do not display FIX and serve as a negative control. Fluorescent signal was generated by staining the library with either an anti-FIX heavy chain antibody (e), an anti-FIX light chain antibody (f) or an anti-Strep II tag antibody (g).

Our paper on building multiplex assays of variant effect for secreted proteins, starting with FIX, is finally (finally!) out on @natsmb.nature.com 🎉

www.nature.com/articles/s41... @varianteffect.bsky.social #hemesky #varianteffects

Coming up in July!
www.varianteffect.org/seminar-seri...

YouTube video by Variant Effects MSS 2025 Day 3 Kresten Lindorff-Larsen

www.youtube.com/watch?v=Orv1...

YouTube video by Variant Effects MSS 2025 Day 1 Dave Adams

www.youtube.com/watch?v=wFei...

YouTube video by Variant Effects MSS 2025 Day 2 Polly Fordyce

www.youtube.com/watch?v=w8kc...

YouTube video by Variant Effects MSS 2025 Day 1 Nicola Whiffin

www.youtube.com/watch?v=Xttu...

The image is a creative sketch showcasing summaries of scientific presentations, visually represented with doodles, text, and portraits of speakers. The artist's Instagram handle, @isabellaease, is displayed.

You can now view #VariantEffect25 presentations from @pollyfordyce.bsky.social @davidjadams.bsky.social @nickywhiffin.bsky.social along with many many others! on our YouTube channel www.youtube.com/@cmap_cegs84... (hat tip to @isabellease.bsky.social for the excellent illustrations)

Thank you to all who joined us in person or online for #VariantEffect25 🌟
📺 Symposium talks are now available on our Youtube channel www.youtube.com/@cmap_cegs8443

You can now find seminar recordings on our YouTube channel. 📺 www.youtube.com/@cmap_cegs8443

Researchers Offer Guidelines for Variant Effect Predictors
www.brotmanbaty.org/news/researc... @brotmanbaty.bsky.social

Today! with Ben Li (University of Michigan Medical School) & Vahid Aslanzadeh (@edinburgh-uni.bsky.social)
ℹ️ www.varianteffect.org/seminar-seri...
#Insulin #FunctionalGenomics #VariantEffects #Seminar

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

We’ve had a change of speakers for June. Still hope you can join us!! www.varianteffect.org/seminar-seri...

Thanks @jonnyfrazer.bsky.social @bennibolo.bsky.social @muffley.bsky.social @benlehner.bsky.social and Mafalda for organizing such a wonderful #VariantEffect25 @varianteffect.bsky.social meeting

Fantastic talks and posters and venue

Thank you @isabellease.bsky.social !
What a treat to have you live sketch the Symposium!

That’s all for #VariantEffect25! This was my first time live sketching a conference, it was a really fun and interesting experience. The science was fantastic, i learnt so much!!

Big thanks to everyone who shared any of my sketches or spoke to me about them, i really appreciate it.

Rose Orenbuch at #VariantEffect25