Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN
Shawn Fayer, Carolyn Horton, Jennifer N. Dines, Alan F. Rubin, Marcy E. Richardson, Kelly McGoldrick, Felicia Hernandez, Tina Pesaran, Rachid Karam, Brian H. Shirts, Douglas M. Fowler, Lea M. Starita
Topics & Concepts
PTENComputational biologyClinical significanceBiologyPhenotypeGeneGeneticsBioinformaticsMedicinePI3K/AKT/mTOR pathwayPathologyApoptosisGenomics and Rare DiseasesCancer Genomics and DiagnosticsGene expression and cancer classification