Homo sapiens Transcriptome or Gene expression. Homo sapiens

RNA-sequencing was performed on the muscle samples of a large cohort of subjects with undiagnosed muscular disorders in order to identify the cause of their pathologies. Transcriptomic data allows for both the identification of genomic variants on disease-relevant genes (expressed in muscles) and the observation of functional effects of said mutations through differential gene expressions or pathway analysis. The goal of this project was to assess the performance of RNA-sequencing in the context of clinical genetic testings. mRNA stranded library were prepared with Illumina TruSeq HT adapters and sequenced using Illumina HiSeq 2500 PE 125 technology.