Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles - Coban-Akdemir, Zeynep; White, Janson J.; Song, Xiaofei; Jhangiani, Shalini N.; Fatih, Jawid M.; Gambin, Tomasz; Bayram, Yavuz; Chinn, Ivan K.; Karaca, Ender; Punetha, Jaya; Poli, Cecilia; Boerwinkle, Eric; et al. (American journal of human genetics, 2018)
Keywords: Alleles; antimorphic; bioinformatic tool; Codon, Nonsense - genetics; Databases, Genetic; dominant negative; Exome - genetics; frameshift alleles; Gain of Function Mutation - genetics; genotype-phenotype correlations; Humans; Mutation - genetics; NMD escape intolerance scores; NMDEscPredictor; Nonsense Mediated mRNA Decay - genetics; nonsense-mediated decay; Phenotype; stopgain variants; WES analysis; antimorphic; nonsense-mediated decay; frameshift alleles; stopgain variants; WES analysis; NMDEscPredictor; genotype-phenotype correlations; dominant negative; NMD escape intolerance scores; bioinformatic tool