#variantclassification Suchergebnisse
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.
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
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
Out of sight out of mind. Shortening the time from consent to #results return may improve uptake of #secondaryfindings return. bit.ly/4ftAqPn #variantclassification
Standing room only for session "Sequencing, proceed with caution" So excited to see packed rooms at #ASHG23 #variantclassification #VUS #Reclassification
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
"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…
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
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
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
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
Clarity is crucial in diagnostic decision-making. #VariantClassification #WhitePaper blueprintgenetics.com/news-item/how-…
Shows the real-world impact of variant reclassification and the frustration of a 'VUS' designation. #genetictest #variantclassification #VUS #genetest #DNAtest #geneticTesting #brca #brcaTest #brcaTesting
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…
Assessing clinical utility of protein structural analysis in genomic #VariantClassification: experiences from a diagnostic laboratory genomemedicine.biomedcentral.com/articles/10.11… Tapping into 5yrs of data generated at a UK NHS genomic medicine Dx lab H/T genomeweb.com/resources/scan #ProteinStructure #VUS
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
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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