Associated Papers
Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system.
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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
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Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15.
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A Bayesian framework for efficient and accurate variant prediction.
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