Top Tweets for #VariantClassification
Integrating RNA analysis with clinical exome sequencing could resolve over 5% of uncertain variants, significantly boosting diagnostic accuracy for rare disease patients. https://t.co/qjTDGGko4d #GIMO #ExomeSequencing #RareDisease #RNA #VariantClassification
C. elegans model enables rapid reclassification of FH gene variants, offering a powerful tool to interpret #VUS and improve diagnosis in FH-associated metabolic diseases. https://t.co/yA2zb81tB2 #GIMO #FHfum1 #ClinicalVariant #CRISPR #VariantClassification #ClinicalDiagnosis
Out of sight out of mind. Shortening the time from consent to #results return may improve uptake of #secondaryfindings return. https://t.co/46C8cFWzWx #variantclassification
This study evaluated GPT-4o, Llama 3.1, and Qwen 2.5 for classifying cancer genetic variants from OncoKB, CIViC, and a real-world #FoundationOne CDx dataset.
@Nature_NPJ
#Onco404 #Cancer #Kanser #PrecisionOncology #AI #MedTwitter #Genomics #LLM #VariantClassification #CDx
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 https://t.co/0y0gALmtdJ #variantclassification #reclassification @HeidiRehm
ENIGMA VCEP guidelines significantly improve BRCA1/BRCA2 variant interpretation, reducing VUS rates and streamlining clinical diagnostics https://t.co/3JCzYCDiOX #GIMO #ACMGAMP #BRCA1 #BRCA2 #VUS #ColdSpot #VariantClassification #UCSCGenomeBrowser #ClinicalGenetics
"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 variant classification accuracy for #germlinetesting, exceeding the standards set by @TheACMG & @AMPath (https://t.co/NOxT4iQYKG @JAMANetworkOpen )
#access #reducedisparities #precisionmedicine #precisiontherapy #clinicaltrials #precisionprevention #AI #precisionclassification
https://t.co/61Rp9QhibE
"Reducing uncertainty in #variantclassification by leveraging the capabilities of #evidencemodeling" presented by @LaureFresard @Invitae @Labcorp @GeneticsSociety #ASHG24
https://t.co/Y2VUomX97F
#access #reducedisparities #germlinetesting #genetictesting #precisionmedicine #AI #precisioninterpretation
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 https://t.co/GhdybB2IcL
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
https://t.co/oKb0x1N5Ez
We’re thrilled to have Dr Leslie Biesecker from the @NIH present “Evolving guidelines for variant classification” at our next #DNAdialogue seminar!
📅 Thursday 30 May, 9am (AEST)
Register here: https://t.co/wddO84mmbX
@genome_gov #genomics #SeminarSeries #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
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
https://t.co/OnwYKTFlzD
No tool can do it all. Thorough #biocuration still relies on multiple #literaturemining tools https://t.co/vAg3sW4u2A #RYR1 #variantclassification
for improved variant interpretation. We provide a user friendly guide on "how to" and a simple logistic regression calculator here: https://t.co/A0q9a5QwLy
#variantclassification #breastcancerresearch #progresshappenstogether 3/3
Specific #epigenetic signature in CTCF-related autosomal dominant intellectual developmental disorder-21: another tool for diagnosis and #variantclassification https://t.co/DpkdGHzk8q
Recommendations from the #ClinGen Low Penetrance/ #RiskAllele working group support harmonized interpretation, #variantclassification, and reporting for low penetrance variants https://t.co/QG1heVBwrK #GIM
Standing room only for session "Sequencing, proceed with caution"
So excited to see packed rooms at #ASHG23 #variantclassification #VUS #Reclassification
Shin Hayashi shows novel approach to rapidly generate transgenic mouse models mimicking #VUS seen in patients to clarify pathogenicity. Outstanding work and approach to characterize tricky #VUS variants.
#Cas9 #humangenetics #variantclassification
#ASHG23 @GeneticsSociety
Hi #GCchat and other users of #ClinVar. You'll want to watch this video we just launched to train clinicians & researchers on the common sources of #GermLine #VariantClassification errors within the context of ClinVar entries. Please share it with others.
https://t.co/iP2e9LBnFw
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