DECIPHER version 11.38 has been released. See the new features at www.deciphergenomics.org #variantinterpretation

Image describes the two talks upcoming in the April Variant Effect Seminar. Olivia Zhang's talk: KBTBD4 Cancer Hotspot Mutations Drive Neomorphic Degradation of HDAC1/2 Corepressor Complexes. Yuta Yamamoto's talk: Scaled multidimensional assays of variant effect for hypertrophic cardiomyopathy. Sign up via the QR code or at varianteffect.org/seminar-series.

Save the date for April's Variant Effects Seminar, where we will be joined by two more speakers with talks covering cancer and cardiology topics.

#Genomics #CancerBiology #VariantInterpretation #DeepMutationalScanning #FunctionalGenomics #ResearchTalk #StructuralBiology #AtlasOfVariantEffect

The image shows the program for the March 3 Variant Effects Seminar Series. More info is available via a QR code or at www.varianteffect.org/seminar-series

If you're a researcher in cancer biology, genetics, structural biology, don't miss tomorrow's seminar on variant characterization and therapeutic implications.

Join the seminar here: tinyurl.com/kj3w35cn
⏰ 9–10 am, Pacific | 12–1 pm, Eastern | 5–6 pm, GMT ⏰

#VariantInterpretation

DECIPHER version 11.37 has been released. See the new features at www.deciphergenomics.org #variantinterpretation

Harnessing Artificial Intelligence for Genomic Variant Prediction: Advances, Challenges, and Future Directions. #GenomicVariants #VariantInterpretation #AI @gigascience.bsky.social
academic.oup.com/gigascience/...

In our perspective in NAR Genomics and Bioinformatics @narjournal.bsky.social, we argue for annotating variants against expressed transcripts .
We also outline simple bioinformatic approaches to do this in practice.

📄 academic.oup.com/nargab/artic...

#Transcriptomics #VariantInterpretation

DECIPHER version 11.35 has been released. See the new features at www.deciphergenomics.org #variantinterpretation

📅OCT 17 | 2:30-4:30 PM | Poster 5057F
Jayoung Ryu ( @jykr.bsky.social ) presents "SIMBA+: Dissecting genetic variant function through single-cell multiomics integration"
Exciting multiomics integration work! #SingleCell #Multiomics #VariantInterpretation #ASHG2025

📢 September’s #AltmetricChampion!
Spotlight paper this month: ‘Not all pathogenic variants are in coding regions! A review of Mendelian disease–causing UTR variants' 🧬

Read here ⬇️
#Genetics #UTR #VariantInterpretation

💡Latest DECIPHER features!

⚛️ ProtVar (www.ebi.ac.uk/ProtVar/) links to functional annotations of missense variants
⚕️ ClinGen (clinicalgenome.org) VCEP Recommendations highlighted
📝 Descriptive names for gene & protein predictive scores

👉 More info www.deciphergenomics.org

#variantinterpretation

DECIPHER version 11.34 has been released. See the new features at www.deciphergenomics.org #variantinterpretation

If you're keen to learn more about working with Multiplex Assays of Variant Effects data, there's still time to apply for our November training course!

Get your application completed for submission by next Monday 18 August

We look forward to welcoming you soon! #MAVE25
#VariantInterpretation

Multiplexed assays of variant effect for clinical variant interpretation. #VariantInterpretation #VariantEffect #Genetics @natrevgenet.nature.com
www.nature.com/articles/s41...

Wellcome Connecting Science Multiplex Assays of Variant Effects Course dates: 23-28 November 2025 Location: Wellcome Genome Campus, UK Application and bursary deadline: 18 August - apply now

Apply for Multiplex Assays of Variant Effects training by 18 August! ⏰

Join our experts to learn how to strengthen your genetic disease research or clinical work using MAVE data. 🧬

Financial assistance available💸

📎Find out more: bit.ly/3EW3lh4
#MAVE25 #VariantInterpretation

DECIPHER version 11.33 has been released. See the new features at www.deciphergenomics.org #variantinterpretation

Episode 4 of the ESHG Webinar Series is now available on YouTube!
Kaitlin Samocha discusses how population data can improve variant interpretation, with a focus on rare disease.

📺 Watch the recording: youtu.be/pWhienkM6L4?...

#Genomics #RareDisease #VariantInterpretation #ESHG

DECIPHER version 11.32 has been released. See the new features at www.deciphergenomics.org #variantinterpretation

Onkopus: precise interpretation and prioritization of sequence variants for biomedical research and precision medicine. #GeneticVariants #VariantInterpretation #GeneticAlterations #CancerVariants @narjournal.bsky.social‬ 🧬 🖥️
academic.oup.com/nar/advance-...

"Navigating variant interpretation in a sea of guidelines"

A wonderful educational session by Dr Julia Baptista on how to balance the evidence, context, and uncertainty in Genomics; using ACMG/ACGS general criteria as well as ClinGen and disease-specific criteria

#ESHG2025 #VariantInterpretation

ClinGen #RASopathy VCEP updates ACMG/AMP variant guidelines, enhancing classification for dominant and recessive RASopathies with broader applications to rare disease genomics bit.ly/3H0AF7s #GIMO #VariantInterpretation #MAPK #Noonan #ACMG #AMP #GeneticDiagnosis #ClinGen

DECIPHER version 11.31 has been released. See the new features at www.deciphergenomics.org #variantinterpretation

So, tell us, what's your approach to #variantinterpretation? We're always keen to learn about your favourite tools and websites and, of course, the lesser-known out there. Here's a start: //TB

If you are doing clinical interpretation of genome variants, have a look if your work could be part of this special issue.
#genomics #variantinterpretation #clinicalgenome

DECIPHER version 11.30 has been released. See the new features at www.deciphergenomics.org #variantinterpretation

Saturation mapping of MUTYH variant effects using DNA repair reporters Variants of uncertain significance (VUS) limit the actionability of genetic testing. A prominent example is MUTYH, a base excision repair factor associated with polyposis and colorectal cancer, which ...

New preprint! Led by postdoc Shelby Hemker, we systematically test the function of every possible coding mutation in MUTYH, a colorectal cancer risk gene with a high pathogenic carrier rate (~1:50 in some ancestry groups). #VUS #VariantInterpretation
www.biorxiv.org/content/10.1...
1/5

Thank you for contributing to this important work! 🔍
#Genomics #HearingGenetics #OcularGenetics #VariantInterpretation #VUS

Wellcome Connecting Science Genomic Imprinting: From Biology to Disease hybrid conference 10-12 March 2025 Location: Hinxton Hall Conference Centre, Wellcome Genome Campus, UK and online In-person registration deadline: 11 February 2025 Virtual registration deadline: 4 March 2025

⏰ Register to join us in person at #GenomicImprinting25 by 11 February 2025!

Participate in networking with genomic imprinting leaders, and discover how breakthroughs in the field are paving the way for improved clinical care of #ImprintingDisorders 🧬

📎 Info: bit.ly/4gefA61
#VariantInterpretation

Join us for this must-attend conference! 🌟 Explore discussions on #variantinterpretation guidelines, tools, variant effects, and more. Don’t miss insights from our stellar lineup of speakers, details here: bit.ly/4gt4EB6 @deciphergenomics.bsky.social @heidirehm.bsky.social @ee-reh-neh.bsky.social

DECIPHER version 11.29 has been released. See the new features at www.deciphergenomics.org #variantinterpretation

Wellcome Connecting Science Genomic Imprinting: From Biology to Disease hybrid conference 10-12 March 2025 Location: Hinxton Hall Conference Centre, Wellcome Genome Campus, UK and online Bursary deadline: 10 December 2024 Abstract deadline: 15 January 2025 In-person registration deadline: 11 February 2025 Virtual registration deadline: 4 March 2025

Present your genomic imprinting insights at our 2025 conference! #GenomicImprinting25

Demonstrate how breakthroughs in the field are paving the way for improved clinical care of #ImprintingDisorders

⏰Submit your abstract by 15 January!
📎 Find out more: bit.ly/4gefA61

#VariantInterpretation