When phenotype does not match genotype: importance of “real-time” refining of phenotypic information for exome data interpretation
Lina Basel‐Vanagaite, Noa Ruhrman‐Shahar, Naama Orenstein, Yael Goldberg, Claudia Gonzaga‐Jauregui, Alan R. Shuldiner, Rivka Sukenik‐Halevy, Idit Maya, Nurit Magal, Ofir Hagari, Noy Azulay, Gabriel Lidzbarsky, Lily Bazak
Topics & Concepts
ProbandPhenotypeExome sequencingExomeGeneticsDiseaseGenetic counselingGenetic testingClinical phenotypeMedicineBioinformaticsBiologyMutationPathologyGeneGenomics and Rare DiseasesBRCA gene mutations in cancerPrenatal Screening and Diagnostics