Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants amongst exon-captured variants of uncertain significance

The genetic heterogeneity of Mendelian disorders results in a significant proportion of patients that are unable to be assigned a confident molecular diagnosis after conventional exon sequencing and variant interpretation. Here we evaluated how many patients with an inherited retinal disease (IRD) h...

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Publicado en:Hum Mutat
Autores principales: Soens, Zachry T., Branch, Justin, Wu, Shijing, Yuan, Zhisheng, Li, Yumei, Li, Hui, Wang, Keqing, Xu, Mingchu, Rajan, Lavan, Motta, Fabiana L., Simões, Renata T., Lopez-Solache, Irma, Ajlan, Radwan, Birch, David G., Zhao, Peiquan, Porto, Fernanda B., Sallum, Juliana, Koenekoop, Robert K., Sui, Ruifang, Chen, Rui
Formato: Artigo
Lenguaje:Inglês
Publicado: 2017
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5638688/
https://ncbi.nlm.nih.gov/pubmed/28714225
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23294
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