Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies - Iancu, Ionut-Florin; Avila-Fernandez, Almudena; Arteche, Ana; Trujillo-Tiebas, Maria Jose; Riveiro-Alvarez, Rosa; Almoguera, Berta; Martin-Merida, Inmaculada; Del Pozo-Valero, Marta; Perea-Romero, Irene; Corton, Marta; Minguez, Pablo; Ayuso, Carmen (Npj genomic medicine, 2021)
Keywords: 631/208/2489/144; 692/699/3161/3175; Algorithms; Bioinformatics; Biomedical and Life Sciences; Biomedicine; Disease; Gene frequency; Gene Function; Gene Therapy; Genes; Genetics; Genomics; Human Genetics; Internal Medicine; Laboratories; Pathogenicity; Rare diseases; Reclassification; Retina