#varianteffects
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varianteffect.bsky.social
What a year! #VariantEffects #Seminar
ℹ️ www.varianteffect.org/previous-sem...
📺 YouTube channel (www.youtube.com/playlist?lis...)
December 3, 2024 at 8:10 PM
varianteffect.bsky.social
🧬 New VESS talk alert! "Understanding GPCRs with massive mutagenesis" with Taylor Mighell @crg.eu @sangerinstitute.bsky.social @embo.org @cam.ac.uk
Watch the Dec 2 seminar now on YouTube
#VariantEffects #GPCR #FunctionalGenomics
🎥 www.youtube.com/watch?v=lSFt...
December 9, 2025 at 2:23 PM
varianteffect.bsky.social
🧬 There's still time to submit your application to join the Variant Effect Seminar Series (VESS) Organizing Committee - but not much. Applications close tomorrow - April 30!
ℹ️ Learn more and apply👇
forms.gle/vdLh3mu9Fuid...
#VESS #VariantEffects #Seminar #Genomics #EarlyCareer
April 29, 2026 at 8:05 AM
varianteffect.bsky.social
🗓️Coming up on March 4th!
ℹ️ www.varianteffect.org/seminar-series #VariantEffectPredictor #VariantEffects
#FunctionalGenomics #Seminar
February 18, 2025 at 3:16 PM
varianteffect.bsky.social
🧬 Join the VESS Organizing Committee! We are looking for early-career scientists to help shape our global, community-driven seminar program.
📅 Deadline to apply: April 30, 2026
ℹ️ Learn more and apply👇
forms.gle/vdLh3mu9Fuid...
#VESS #VariantEffects #Seminar #Genomics #EarlyCareer
April 6, 2026 at 4:13 PM
kroman.bsky.social
🎥 My Variant Effects Seminar Series (VESS) talk is now on YouTube! I discuss how DropSynth-based gene synthesis reveals how bacterial DHFR variants evolve antibiotic resistance. Thanks to @varianteffect.bsky.social for the invite!

🔗 www.youtube.com/watch?v=KiA9...

#VESS #VariantEffects #DropSynth
"Large-scale synthetic gene libraries for decoding variant effects in antibiotic resistance"
YouTube video by Variant Effects
www.youtube.com
October 10, 2025 at 11:26 PM
klannert.bsky.social
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
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).
June 16, 2025 at 2:58 PM
jacobkitzman.bsky.social
Delighted for this to be published at AJHG @ajhgnews.bsky.social ! Updates vs the preprint include new comparisons to AlphaMissense and other predictors. We hope this map will help improve clinical variant interpretation in MUTYH! #VUS #VariantEffects #ColorectalCancer www.cell.com/ajhg/fulltex...
August 6, 2025 at 6:40 PM
onehealthgenomics.bsky.social
New Publication:
Mechanistic modeling of recessive disease through allelic integration of variant effects

@uoe-igc.bsky.social

#functionalgenomics #varianteffects #deepmutationalscanning #recessivedisease #enzymebiochemistry

www.sciencedirect.com/science/arti...
Mechanistic modeling of recessive disease through allelic integration of variant effects
Interpreting variants in recessive diseases is difficult because clinical severity depends on the combined function of both alleles. Deep mutational s…
www.sciencedirect.com
June 26, 2026 at 2:10 PM
biorxiv-genomic.bsky.social
LOL-EVE: Predicting Promoter VariantEffects from Evolutionary Sequences https://www.biorxiv.org/content/10.1101/2024.11.11.623015v1
LOL-EVE: Predicting Promoter VariantEffects from Evolutionary Sequences https://www.biorxiv.org/content/10.1101/2024.11.11.623015v1
Genetic studies reveal extensive disease-associated variation across the human genome, predominantly
www.biorxiv.org
November 13, 2024 at 1:38 AM
varianteffect.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
June 3, 2025 at 12:46 PM
scienceinseattle.com
A @brotmanbaty.bsky.social-led paper shows that #VariantEffects span a multi-dimensional continuum, rather than a pathogenic-benign binary, or 1-D spectrum.

Learn more about how Drs. Sriram Pendyala and Doug Fowler used VIS-seq to visualize molecular and cellular phenotypes: https://bit.ly/47yrhTI
September 11, 2025 at 9:53 PM
biorxivpreprint.bsky.social
LOL-EVE: Predicting Promoter VariantEffects from Evolutionary Sequences https://www.biorxiv.org/content/10.1101/2024.11.11.623015v1
LOL-EVE: Predicting Promoter VariantEffects from Evolutionary Sequences https://www.biorxiv.org/content/10.1101/2024.11.11.623015v1
Genetic studies reveal extensive disease-associated variation across the human genome, predominantly
www.biorxiv.org
November 13, 2024 at 1:38 AM