Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

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Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles (1).pdf (1.7 MB)

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2018

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Artículos Medicina y Ciencias de la Salud

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https://doi.org/10.1016/j.ajhg.2018.06.009
 http://hdl.handle.net/11447/6155

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Abstract

Premature termination codon (PTC)-bearing transcripts are often degraded by nonsense-mediated decay (NMD) resulting in loss-of-function (LoF) alleles. However, not all PTCs result in LoF mutations, i....

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Coban-Akdemir Z, White JJ, Song X, Jhangiani SN, Fatih JM, Gambin T, Bayram Y, Chinn IK, Karaca E, Punetha J, Poli C; Baylor-Hopkins Center for Mendelian Genomics, Boerwinkle E, Shaw CA, Orange JS, Gibbs RA, Lappalainen T, Lupski JR, Carvalho CMB. Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles. Am J Hum Genet. 2018 Aug 2;103(2):171-187. doi: 10.1016/j.ajhg.2018.06.009.

Keywords

NMD escape intolerance scores , NMDEscPredictor , WES analysis , Antimorphic , Bioinformatic tool , Dominant negative , Frameshift alleles , Genotype-phenotype correlations , Nonsense-mediated decay , Stopgain variants

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