Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles - Zeynep Coban-Akdemir; Janson J. White; Xiaofei Song; Shalini N. Jhangiani; Jawid M. Fatih; Tomasz Gambin; Yavuz Bayram; Ivan K. Chinn; Ender Karaca; Jaya Punetha; Cecilia Poli; Eric Boerwinkle; et al. (My University, 2018)
Keywords: nmd escape intolerance scores; nmdescpredictor; wes analysis; antimorphic; bioinformatic tool; dominant negative; frameshift alleles; genotype-phenotype correlations; nonsense-mediated decay; stopgain variants