#variantclassification search results
PCR-based RNA diagnostics – one more tool to end the diagnostic odyssey? bit.ly/3oSaKmE #geneticdiagnosis #variantclassification
#EditorsChoice "Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants" bit.ly/3oSaKmE by Adam M. Bournazos et al. #geneticdiagnosis #variantclassification
Recommendations from the #ClinGen Low Penetrance/ #RiskAllele working group support harmonized interpretation, #variantclassification, and reporting for low penetrance variants bit.ly/3ShSyBV #GIM
Crowdsourced opinion of the community in action 🙋♀️🙋regarding future ACMG/AMP guidelines 📰 #VariantClassification #ESHG2021 So integral to our work - great to see how decisions are being made in real time, interesting to see where people agree and disagree
Need to clarify a VUS? A study using humanized C. elegans animal model empowered with #machinelearning approach demonstrates a fast and efficient platform for functional testing of variants in STXBP1 #variantclassification #animalmodel bit.ly/44sHHbT #GIMOpen.
GenQA are delighted to have assisted in the recently published ACGS 'Best Practice Guidelines for Variant Classification 2019'. The full guidelines can be viewed at genqa.org/sites/default/… @acgs_news #bestpractice #variantclassification
Use of PP3/BP4 evidence from calibrated computational prediction tools has little impact on the number of variants classified as Pathogenic or Likely Pathogenic #ACMG/AMP #variantclassification #computational predictors bit.ly/3ZtV0cn
Come and chat to @GenQA’s Director - Prof Sandi Deans who will standing at her poster P17.003 ‘Standardising the variability of #variantclassification’ tomorrow at 13.00h. #ESHG2022 🇦🇹 #eqa #genomics #quality @eshgsociety
A powerful testimonial for #MastermindGSE. I just searched 39 variants presumed to be novel based on thorough vetting by the clinical research team. I identified literature on 12 (31%) that had not been found. THIS is why Mastermind search is crucial for #variantclassification
To report or not to report? The utilization of #VUS subclasses & the development of subclass-specific professional guidance are crucial for improving patient diagnosis and resource utilization bit.ly/44eexA7 #variantclassification #reclassification @HeidiRehm
Specific #epigenetic signature in CTCF-related autosomal dominant intellectual developmental disorder-21: another tool for diagnosis and #variantclassification bit.ly/47CaAmx
Clarity is crucial in diagnostic decision-making. #VariantClassification #WhitePaper blueprintgenetics.com/news-item/how-…
Due to the lack of systematic & stable #variantclassification processes, other genetic databases often contain misclassified variants. Learn how CENTOGENE’s variant classification distinguishes itself via superior processes & diversity of data: bit.ly/2PvzVaL
Our #variantclassification process benefits from access to patient information from a large & diverse patient cohort. It allows us to separate truly disease-causing from population-specific variants, supporting the medical pathway thereafter. Learn more: bit.ly/2Rr41gN
Standing room only for session "Sequencing, proceed with caution" So excited to see packed rooms at #ASHG23 #variantclassification #VUS #Reclassification
Hi! CTF #Hack4NF will start on Oct 15 with in-person kick-off in NYC and Seattle! Join us for #GenomicClassification #VariantClassification #DrugTargetPrediction in #neurofibromatosis. $25K in cash prizes! hack4nf.org
Shows the real-world impact of variant reclassification and the frustration of a 'VUS' designation. #genetictest #variantclassification #VUS #genetest #DNAtest #geneticTesting #brca #brcaTest #brcaTesting
Out of sight out of mind. Shortening the time from consent to #results return may improve uptake of #secondaryfindings return. bit.ly/4ftAqPn #variantclassification
Drs Madhuri Hegde of @PerkinElmer and @MeganMegaPow had an exciting recording of an episode on #variantclassification in #genetics and #genomics, including discussing the important limitations of #artificialintelligence currently in art + science of clinical genetics & genomics
ICYMI: Briana Marmelstein and Avi Anantharajah shared the collaboration that led to a patient's CDH1 variant being classified. Find out why it takes a village. #genetictesting #variantclassification #breastcancer #gastriccancer #RNA #DNA #Genomics hubs.ly/Q02nH3Br0
Out of sight out of mind. Shortening the time from consent to #results return may improve uptake of #secondaryfindings return. bit.ly/4ftAqPn #variantclassification
To report or not to report? The utilization of #VUS subclasses & the development of subclass-specific professional guidance are crucial for improving patient diagnosis and resource utilization bit.ly/44eexA7 #variantclassification #reclassification @HeidiRehm
"The impact of systematized generation, evaluation, and incorporation of #machinelearning algorithms for #clinical #variantclassification" in #germline #genetictesting, #LaureFresard et al. Just one of the reasons @Invitae/#LabcorpGenetics/@Labcorp has the highest published…
"Reducing uncertainty in #variantclassification by leveraging the capabilities of #evidencemodeling" presented by @LaureFresard @Invitae @Labcorp @GeneticsSociety #ASHG24 eppro02.ativ.me/appinfo.php?pa… #access #reducedisparities #germlinetesting #genetictesting #precisionmedicine #AI…
Use of PP3/BP4 evidence from calibrated computational prediction tools has little impact on the number of variants classified as Pathogenic or Likely Pathogenic #ACMG/AMP #variantclassification #computational predictors bit.ly/3ZtV0cn
Excellent work by @CRowlandsBio and team at ICR and CanVIG - if you do variant classification, then this tool is a must #PS4 #casecontrolanalysis #variantclassification #CanVIG #cancer #cancergenetics @clare__turnbull @MirandaDurkie @DrAliceGarrett pubmed.ncbi.nlm.nih.gov/39227160/
ICYMI: Briana Marmelstein and Avi Anantharajah shared the collaboration that led to a patient's CDH1 variant being classified. Find out why it takes a village. #genetictesting #variantclassification #breastcancer #gastriccancer #RNA #DNA #Genomics hubs.ly/Q02nH3Br0
for improved variant interpretation. We provide a user friendly guide on "how to" and a simple logistic regression calculator here: biostatisticsunitcing.shinyapps.io/Logistic_regre… #variantclassification #breastcancerresearch #progresshappenstogether 3/3
Specific #epigenetic signature in CTCF-related autosomal dominant intellectual developmental disorder-21: another tool for diagnosis and #variantclassification bit.ly/47CaAmx
Recommendations from the #ClinGen Low Penetrance/ #RiskAllele working group support harmonized interpretation, #variantclassification, and reporting for low penetrance variants bit.ly/3ShSyBV #GIM
Standing room only for session "Sequencing, proceed with caution" So excited to see packed rooms at #ASHG23 #variantclassification #VUS #Reclassification
This free assessment is now open. If you have not yet registered then go to genqa.org/BRCA-HRR. You have until 31st October to classify the variants! #BRCA #HRR #variantclassification #EQA #quality #individualcompetency #genomics #BRCA1 #BRCA2
AlphaMissense, a promising tool to predict missense variant effects #geneticdiagnosis #variantclassification #hereditarycancer
AlphaMissense, a tool by DeepMind, can help researchers learn more about the effects that missense mutations have on disease, and could help identify previously unknown disease-causing genes, according to a new Science study. Learn more: scim.ag/49l
Need to clarify a VUS? A study using humanized C. elegans animal model empowered with #machinelearning approach demonstrates a fast and efficient platform for functional testing of variants in STXBP1 #variantclassification #animalmodel bit.ly/44sHHbT #GIMOpen.
PCR-based RNA diagnostics – one more tool to end the diagnostic odyssey? bit.ly/3oSaKmE #geneticdiagnosis #variantclassification
#EditorsChoice "Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants" bit.ly/3oSaKmE by Adam M. Bournazos et al. #geneticdiagnosis #variantclassification
Recommendations from the #ClinGen Low Penetrance/ #RiskAllele working group support harmonized interpretation, #variantclassification, and reporting for low penetrance variants bit.ly/3ShSyBV #GIM
Need to clarify a VUS? A study using humanized C. elegans animal model empowered with #machinelearning approach demonstrates a fast and efficient platform for functional testing of variants in STXBP1 #variantclassification #animalmodel bit.ly/44sHHbT #GIMOpen.
Use of PP3/BP4 evidence from calibrated computational prediction tools has little impact on the number of variants classified as Pathogenic or Likely Pathogenic #ACMG/AMP #variantclassification #computational predictors bit.ly/3ZtV0cn
GenQA are delighted to have assisted in the recently published ACGS 'Best Practice Guidelines for Variant Classification 2019'. The full guidelines can be viewed at genqa.org/sites/default/… @acgs_news #bestpractice #variantclassification
To report or not to report? The utilization of #VUS subclasses & the development of subclass-specific professional guidance are crucial for improving patient diagnosis and resource utilization bit.ly/44eexA7 #variantclassification #reclassification @HeidiRehm
Crowdsourced opinion of the community in action 🙋♀️🙋regarding future ACMG/AMP guidelines 📰 #VariantClassification #ESHG2021 So integral to our work - great to see how decisions are being made in real time, interesting to see where people agree and disagree
Come and chat to @GenQA’s Director - Prof Sandi Deans who will standing at her poster P17.003 ‘Standardising the variability of #variantclassification’ tomorrow at 13.00h. #ESHG2022 🇦🇹 #eqa #genomics #quality @eshgsociety
Specific #epigenetic signature in CTCF-related autosomal dominant intellectual developmental disorder-21: another tool for diagnosis and #variantclassification bit.ly/47CaAmx
Out of sight out of mind. Shortening the time from consent to #results return may improve uptake of #secondaryfindings return. bit.ly/4ftAqPn #variantclassification
Clarity is crucial in diagnostic decision-making. #VariantClassification #WhitePaper blueprintgenetics.com/news-item/how-…
ICYMI: Briana Marmelstein and Avi Anantharajah shared the collaboration that led to a patient's CDH1 variant being classified. Find out why it takes a village. #genetictesting #variantclassification #breastcancer #gastriccancer #RNA #DNA #Genomics hubs.ly/Q02nH3Br0
A powerful testimonial for #MastermindGSE. I just searched 39 variants presumed to be novel based on thorough vetting by the clinical research team. I identified literature on 12 (31%) that had not been found. THIS is why Mastermind search is crucial for #variantclassification
"The impact of systematized generation, evaluation, and incorporation of #machinelearning algorithms for #clinical #variantclassification" in #germline #genetictesting, #LaureFresard et al. Just one of the reasons @Invitae/#LabcorpGenetics/@Labcorp has the highest published…
Shows the real-world impact of variant reclassification and the frustration of a 'VUS' designation. #genetictest #variantclassification #VUS #genetest #DNAtest #geneticTesting #brca #brcaTest #brcaTesting
Hi! CTF #Hack4NF will start on Oct 15 with in-person kick-off in NYC and Seattle! Join us for #GenomicClassification #VariantClassification #DrugTargetPrediction in #neurofibromatosis. $25K in cash prizes! hack4nf.org
Congenica v2.5 is here! We've made a significant step on our journey to intelligently, safely, and confidently Automate #VariantClassification and reporting, and launched our Congenica SpliceSiteFinder and SpliceAI. Learn more: hubs.ly/H0sRkrX0 #Genomics #Automation
Drs Madhuri Hegde of @PerkinElmer and @MeganMegaPow had an exciting recording of an episode on #variantclassification in #genetics and #genomics, including discussing the important limitations of #artificialintelligence currently in art + science of clinical genetics & genomics
Three @GenQA Deputy Directors are presenting today at the @acgs_news 2021 Annual Meeting. If you're attending then join us for our presentation on variant classification! @UKNEQAS #genomics #EQA #variantclassification
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