Thank you for contributing to this important work! 🔍
#Genomics #HearingGenetics #OcularGenetics #VariantInterpretation #VUS
#Genomics #HearingGenetics #OcularGenetics #VariantInterpretation #VUS
February 3, 2025 at 8:25 PM
Thank you for contributing to this important work! 🔍
#Genomics #HearingGenetics #OcularGenetics #VariantInterpretation #VUS
#Genomics #HearingGenetics #OcularGenetics #VariantInterpretation #VUS
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 11.30 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 11.34 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
Multiplexed assays of variant effect for clinical variant interpretation. #VariantInterpretation #VariantEffect #Genetics @natrevgenet.nature.com
www.nature.com/articles/s41...
www.nature.com/articles/s41...
July 29, 2025 at 3:02 PM
Multiplexed assays of variant effect for clinical variant interpretation. #VariantInterpretation #VariantEffect #Genetics @natrevgenet.nature.com
www.nature.com/articles/s41...
www.nature.com/articles/s41...
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
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
January 6, 2025 at 11:56 AM
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
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
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
📅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
Jayoung Ryu ( @jykr.bsky.social ) presents "SIMBA+: Dissecting genetic variant function through single-cell multiomics integration"
Exciting multiomics integration work! #SingleCell #Multiomics #VariantInterpretation #ASHG2025
October 15, 2025 at 1:41 PM
📅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
Jayoung Ryu ( @jykr.bsky.social ) presents "SIMBA+: Dissecting genetic variant function through single-cell multiomics integration"
Exciting multiomics integration work! #SingleCell #Multiomics #VariantInterpretation #ASHG2025
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
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
May 22, 2025 at 3:14 PM
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
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
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
💡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
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
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
www.biorxiv.org/content/10.1...
1/5
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 ...
www.biorxiv.org
March 7, 2025 at 7:27 PM
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
www.biorxiv.org/content/10.1...
1/5
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
#genomics #variantinterpretation #clinicalgenome
We are excited to announce a call for papers for a special issue of Genome Medicine genomemedicine.biomedcentral.com on "Clinical interpretation of genome variation". The submission deadline is Dec 18, 2025. More info here: go.sn.pub/gskvsk.
Call for papers - Clinical interpretation of genome variation: volume II
go.sn.pub
March 28, 2025 at 10:51 PM
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
#genomics #variantinterpretation #clinicalgenome
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-...
academic.oup.com/nar/advance-...
academic.oup.com
May 31, 2025 at 8:31 PM
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-...
academic.oup.com/nar/advance-...
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 11.35 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
⏰ 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
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
January 27, 2025 at 10:23 AM
⏰ 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
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
📢 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
"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