Table of Contents
J. Pers. Med., Volume 9, Issue 2 (June 2019)
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Cover Story (view full-size image) Personalized medicine is based on an individual’s genome to select therapeutics for disease or its [...] Read more. Personalized medicine is based on an individual’s genome to select therapeutics for disease or its symptoms. An emerging approach to personalized medicine is RNA-seq, a transcriptome-based identification of altered pathways or mutations in actively transcribed genes to target for treatment. Our results indicate a standard ‘omics procedure cannot be applied universally to RNA-seq data, especially for archival specimens, as we found increased read misalignments to pseudogenes by a common aligner program, HISAT2. Correct identification of expressed loci is critical for downstream analyses and alignment quality impacts bioinformatics outcomes, such as differential gene expression. While using bioinformatics RNA-seq pipelines empowers researchers and clinicians to make informed decisions based on identified genes and pathways, the choice of analysis tools may bias results and interpretation. View this paper.