#variantinterpretation

@kim-dekeersmaecker.bsky.social

1 month ago

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

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Javier Santoyo

@jsantoyo.bsky.social

1 month ago

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

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Kim De Keersmaecker lab

3 months ago

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

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European Journal of Human Genetics

4 months ago

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

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Luca Pinello

@lucapinello.bsky.social

5 months ago

📅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

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@ejhg-journal.bsky.social

5 months ago

📢 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

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Mallory Freeberg

@malloryfreeberg.bsky.social

6 months ago

💡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

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6 months ago

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

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7 months ago

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

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Javier Santoyo

@jsantoyo.bsky.social

7 months ago

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

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8 months ago

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

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European Society of Human Genetics

8 months ago

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

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@eshg.bsky.social

8 months ago

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

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Genetics in Medicine Open

8 months ago

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

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Javier Santoyo

@jsantoyo.bsky.social

9 months ago

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-...

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Mohamed Wafik

@mo-wafik.bsky.social

9 months ago

"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

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@gimopenjournal.bsky.social

9 months ago

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

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10 months ago

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

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Junge Humangenetik

@juhumgen.bsky.social

11 months ago

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

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Agnes Caruso

@agnescaruso.bsky.social

11 months ago

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

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@jacobkitzman.bsky.social

11 months ago

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

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Jacob Kitzman

1 year ago

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

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Barbara Vona

@drbarbaravona.bsky.social

1 year ago

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

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Nagehan Ramazanoglu Bahadir

1 year ago

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

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@nagehanr.bsky.social

1 year ago

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

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1 year ago

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

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