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 #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

#EditorsChoice."Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants" by Adam M. Bournazos et al. #geneticdiagnosis #variantclassification

PCR-based RNA diagnostics – one more tool to end the diagnostic odyssey? #geneticdiagnosis #variantclassification

Recommendations from the #ClinGen Low Penetrance/ #RiskAllele working group support harmonized interpretation, #variantclassification, and reporting for low penetrance variants #GIM

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:

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:

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 @acgs_news #bestpractice #variantclassification

Jennifer Herrera-Mullar, MGC, LCGC, discusses the takeaway points of one of Ambry’s poster presentations at #CGC2024. This summary explores two important aspects of gene-disease validity curation. #genetictesting #hereditarycancer #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

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

No tool can do it all. Thorough #biocuration still relies on multiple #literaturemining tools #RYR1 #variantclassification

Clarity is crucial in diagnostic decision-making. #VariantClassification #WhitePaper

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

Non-truncating variants and likely gene disrupting variants in #SMARCC2 produce two distinct phenotypes #Neurodevelopmental disorder #raredisease #variantclassification @the_elbo @berntpopp

This morning @ICHG2023 we had meet the professor round table session. We had a productive discussions with Prof Robert Best, the CEO of American College of Medical Genetics and Genomics #ACMG #Genetics #Genetics #VariantClassification #VariantInterpretation

ENIGMA VCEP guidelines significantly improve BRCA1/BRCA2 variant interpretation, reducing VUS rates and streamlining clinical diagnostics #GIMO #ACMGAMP #BRCA1 #BRCA2 #VUS #ColdSpot #VariantClassification #UCSCGenomeBrowser #ClinicalGenetics

What if it’s a VUS? In this interview, senior geneticist @JennSchleit describes why variants are classified as a VUS and what can be done to advance reclassification. #GeneticKnowledge #genetictesting #genetics #rarediseases #variantclassification

#Review . What’s Wrong in a Jump? #Prediction and #Validation of Splice Site Variants by Claudia Ricci et al. 👉 #alternativesplicing #splicingsites #splicevariant #machinelearning #variantclassification #transcriptomicsanalysis #proteomicsexperiments

Specific #epigenetic signature in CTCF-related autosomal dominant intellectual developmental disorder-21: another tool for diagnosis and #variantclassification