Clinical and molecular characterization of a novel LMX1A frameshift mutation near the C-terminus lead to familial non-syndromic sensorineural hearing loss

Next Generation Sequencing Facilitates Quantitative Analysis of HEI-OC1 cells transduced with vector control, LMX1A WT or c.915dup variant. mRNA profiles of HEI-OC1 cells transduced with vector control, LMX1A WT or c.915dup variant were generated by deep sequencing, in triplicate, using Illumina Navoseq 6000. The sequence reads that passed quality filters were analyzed at the transcript isoform level with two methods: Burrows–Wheeler Aligner (BWA) followed by ANOVA (ANOVA) and TopHat followed by Cufflinks.