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595 high performance, scalable #MachineLearning/ #ML #ClinicalVariantModels/#CVMs using #genetictesting & clinical data from 3.5M #patients @Invitae, generated new evidence to improve classification for >5,000 VUS observed in >200K #patients, 94% would receive benign evidence. #ML #CVMs applied to just 17 genes (inc. #Lynchsyndrome, #DMD, #MEN1, #NF1, #RB1, #SMAD4, #STK11) reclassified >1K VUS, benefitting ~45K #patients reducing VUS rates by 9-49% per condition, w/ >99% of reclassifications VUS -> B/LB link.springer.com/article/10… #DrTobyManders et al. @Labcorp #HumanGenetics @SpringerNature #access #reducedisparities #reduceVUS #germlinetesting #AI #precisionclassification
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