DECIPHER version 11.30 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
March 21, 2025 at 12:18 PM
DECIPHER version 11.30 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
DECIPHER version 11.38 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
March 26, 2026 at 12:46 PM
DECIPHER version 11.38 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
DECIPHER version 11.34 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
September 10, 2025 at 3:47 PM
DECIPHER version 11.34 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
DECIPHER version 11.29 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
January 8, 2025 at 4:01 PM
DECIPHER version 11.29 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
DECIPHER version 11.31 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
May 7, 2025 at 1:28 PM
DECIPHER version 11.31 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
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
youtu.be
June 26, 2025 at 11:27 AM
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
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 11.37 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
January 28, 2026 at 12:46 PM
DECIPHER version 11.37 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
DECIPHER version 11.35 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
October 31, 2025 at 10:07 AM
DECIPHER version 11.35 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
April 2, 2025 at 9:11 AM
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
Harnessing Artificial Intelligence for Genomic Variant Prediction: Advances, Challenges, and Future Directions. #GenomicVariants #VariantInterpretation #AI @gigascience.bsky.social
academic.oup.com/gigascience/...
academic.oup.com/gigascience/...
January 18, 2026 at 10:15 AM
Harnessing Artificial Intelligence for Genomic Variant Prediction: Advances, Challenges, and Future Directions. #GenomicVariants #VariantInterpretation #AI @gigascience.bsky.social
academic.oup.com/gigascience/...
academic.oup.com/gigascience/...
💡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
⚛️ 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
September 11, 2025 at 12:37 PM
💡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
⚛️ 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
Both talks from the May episode of the Variant Effects Seminar Series (VESS) are now available to watch on our YouTube channel ⏯️ bit.ly/4ud02Xa. Catch up with Thea Klarsø Schulze and Jerome Freudenberg's presentations anytime!
#Genomics #VariantInterpretation #AtlasOfVariantEffects
#Genomics #VariantInterpretation #AtlasOfVariantEffects
May 18, 2026 at 1:10 PM
Both talks from the May episode of the Variant Effects Seminar Series (VESS) are now available to watch on our YouTube channel ⏯️ bit.ly/4ud02Xa. Catch up with Thea Klarsø Schulze and Jerome Freudenberg's presentations anytime!
#Genomics #VariantInterpretation #AtlasOfVariantEffects
#Genomics #VariantInterpretation #AtlasOfVariantEffects
"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
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
May 25, 2025 at 1:00 PM
"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
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
😈 ACMG Validator for genetics is now open and free. 🇨🇭🧬 switzerlandomics.ch/technologies...
#genomics #genetics #acmg #raredisease #precisionmedicine #dna #bioinformatics #clinicalgenetics #variantinterpretation #geneticmedicine #biotechnology #lifesciences #medicine #science
#genomics #genetics #acmg #raredisease #precisionmedicine #dna #bioinformatics #clinicalgenetics #variantinterpretation #geneticmedicine #biotechnology #lifesciences #medicine #science
June 12, 2026 at 7:07 AM
😈 ACMG Validator for genetics is now open and free. 🇨🇭🧬 switzerlandomics.ch/technologies...
#genomics #genetics #acmg #raredisease #precisionmedicine #dna #bioinformatics #clinicalgenetics #variantinterpretation #geneticmedicine #biotechnology #lifesciences #medicine #science
#genomics #genetics #acmg #raredisease #precisionmedicine #dna #bioinformatics #clinicalgenetics #variantinterpretation #geneticmedicine #biotechnology #lifesciences #medicine #science
DECIPHER version 11.40 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
DECIPHER v11.40: Mapping the clinical genome
DECIPHER helps the clinical community share and compare human genome variants and phenotypes in a database of tens of thousands of patients worldwide
www.deciphergenomics.org
July 10, 2026 at 9:57 AM
DECIPHER version 11.40 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
Tomorrow, our Variant Effect Seminar speakers will be covering various aspects of the modeling of variant effects. They hope you can join them!
Details here: www.varianteffect.org/seminar-seri...
#Genomics #VariantInterpretation #DeepMutationalScanning #AtlasOfVariantEffects
Details here: www.varianteffect.org/seminar-seri...
#Genomics #VariantInterpretation #DeepMutationalScanning #AtlasOfVariantEffects
May 5, 2026 at 7:56 AM
Tomorrow, our Variant Effect Seminar speakers will be covering various aspects of the modeling of variant effects. They hope you can join them!
Details here: www.varianteffect.org/seminar-seri...
#Genomics #VariantInterpretation #DeepMutationalScanning #AtlasOfVariantEffects
Details here: www.varianteffect.org/seminar-seri...
#Genomics #VariantInterpretation #DeepMutationalScanning #AtlasOfVariantEffects
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
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
July 17, 2025 at 7:00 AM
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
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
July 10, 2025 at 9:05 AM
DECIPHER version 11.33 has been released. See the new features at www.deciphergenomics.org #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
Registration is now open for our Curating the Clinical Genome Conference! #CCG2025
🗓️Dates: 11 - 13 June 2025
If you are interested in shaping best practices for the clinical use of #GenomicsData, then this is the conference for you! 🧬
🗣️ Keynote: @heidirehm.bsky.social
📎Info: bit.ly/4gt4EB6
🗓️Dates: 11 - 13 June 2025
If you are interested in shaping best practices for the clinical use of #GenomicsData, then this is the conference for you! 🧬
🗣️ Keynote: @heidirehm.bsky.social
📎Info: bit.ly/4gt4EB6
January 9, 2025 at 11:05 AM
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 11.32 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
June 18, 2025 at 2:25 PM
DECIPHER version 11.32 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
Get your application completed for submission by next Monday 18 August
We look forward to welcoming you soon! #MAVE25
#VariantInterpretation
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
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
August 15, 2025 at 9:01 AM
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
Get your application completed for submission by next Monday 18 August
We look forward to welcoming you soon! #MAVE25
#VariantInterpretation
DECIPHER version 11.39 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
DECIPHER v11.39: Mapping the clinical genome
DECIPHER helps the clinical community share and compare human genome variants and phenotypes in a database of tens of thousands of patients worldwide
www.deciphergenomics.org
June 10, 2026 at 2:08 PM
DECIPHER version 11.39 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
Folklore is now live.
A variant interpretation platform for clinical genetics labs, it classifies a whole-genome VCF in under 10 minutes and brings nuclear variants, mtDNA, SV/CNV, phenotype and literature into a case record.
#ClinicalGenomics #Bioinformatics #VariantInterpretation
A variant interpretation platform for clinical genetics labs, it classifies a whole-genome VCF in under 10 minutes and brings nuclear variants, mtDNA, SV/CNV, phenotype and literature into a case record.
#ClinicalGenomics #Bioinformatics #VariantInterpretation
Folklore | Clinical Variant Interpretation Platform
Evidence-traceable genomic interpretation with deterministic ACMG classification, phenotype matching, literature evidence, screening and clinical reporting.
folklore.helena.bio
July 14, 2026 at 12:22 PM
Folklore is now live.
A variant interpretation platform for clinical genetics labs, it classifies a whole-genome VCF in under 10 minutes and brings nuclear variants, mtDNA, SV/CNV, phenotype and literature into a case record.
#ClinicalGenomics #Bioinformatics #VariantInterpretation
A variant interpretation platform for clinical genetics labs, it classifies a whole-genome VCF in under 10 minutes and brings nuclear variants, mtDNA, SV/CNV, phenotype and literature into a case record.
#ClinicalGenomics #Bioinformatics #VariantInterpretation
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
Join the seminar here: tinyurl.com/kj3w35cn
⏰ 9–10 am, Pacific | 12–1 pm, Eastern | 5–6 pm, GMT ⏰
#VariantInterpretation
March 2, 2026 at 2:45 PM
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
Join the seminar here: tinyurl.com/kj3w35cn
⏰ 9–10 am, Pacific | 12–1 pm, Eastern | 5–6 pm, GMT ⏰
#VariantInterpretation
📢 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
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
Not all pathogenic variants are in coding regions! 👀
📢 This review highlights Mendelian disease-causing UTR variants, their mechanisms, and implications for clinical interpretation. 🧬 #Mendelian #UTRvariants #ejhg
www.nature.com/articles/s41...
📢 This review highlights Mendelian disease-causing UTR variants, their mechanisms, and implications for clinical interpretation. 🧬 #Mendelian #UTRvariants #ejhg
www.nature.com/articles/s41...
The role of untranslated region variants in Mendelian disease: a review - European Journal of Human Genetics
European Journal of Human Genetics - The role of untranslated region variants in Mendelian disease: a review
www.nature.com
October 3, 2025 at 8:06 AM
📢 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
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