#variantclassification search results

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

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

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

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

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

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

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

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…

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

Read 'BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories' from #FamilialCancer for free: go.nature.com/32OpnPP #BRCA1 #Variantclassification