Evaluating the impact of in silico predictors on clinical variant classification
Emma H. Wilcox, Mahdi Sarmady, Bryan Wulf, Matt W. Wright, Heidi L. Rehm, Leslie G. Biesecker, Ahmad Abou Tayoun
Topics & Concepts
Missense mutationIn silicoMedical geneticsMedicineGold standard (test)Computational biologyBiologyGeneticsMutationInternal medicineGeneGenomics and Rare DiseasesGenetic Associations and EpidemiologyBRCA gene mutations in cancer