Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles
Journal
The American Journal of Human Genetics
ISSN
0002-9297
Date Issued
2018
Author(s)
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
Eric Boerwinkle
Chad A. Shaw
Jordan S. Orange
Richard A. Gibbs
Tuuli Lappalainen
James R. Lupski
Claudia M.B. Carvalho
Type
Resource Types::text::journal::journal article
URL Institutional Repository
Subjects
nmd escape intolerance scores
;
nmdescpredictor
;
wes analysis
;
antimorphic
;
bioinformatic tool
;
dominant negative
;
frameshift alleles
;
genotype-phenotype correlations
;
nonsense-mediated decay
;
stopgain variants