Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization
全基因组测序的表型驱动分析鉴定出因异常外显子化而导致视网膜营养不良的深内含子变异
期刊:Investigative Ophthalmology & Visual Science
影响因子:5
doi:10.1167/iovs.61.10.36
Matteo Di Scipio, Erika Tavares, Shriya Deshmukh, Isabelle Audo, Kit Green-Sanderson, Yuliya Zubak, Fayçal Zine-Eddine, Alexander Pearson, Anjali Vig, Chen Yu Tang, Antonio Mollica, Jonathan Karas, Anupreet Tumber, Caberry W Yu, Gail Billingsley, Michael D Wilson, Christina Zeitz, Elise Héon, Ajoy V