ISSN: 2048-9145

Pharmaceutical Bioprocessing

RNA Sequencing Top Open Access Journals

In recent years, the utilization of next-generation sequencing (NGS) for the diagnosis of Mendelian or rare genetic disorders has entered routine clinical practice. The increasing ability to sequence entire genomes during a cost-effective manner has allowed the identification of roughly 260 novel rare genetic diseases per annum . that specialize in the ∼1.5% of the human genome represented by coding sequences, diagnostic rates of whole-exome sequencing (WES) vary widely by inherited condition, and that they range from 28 to 55% (Retterer et al., 2016). By extending the main target to deep intronic and regulatory variants in non-coding regions, including structural and non-exonic variants not detectable by WES, whole-genome sequencing (WGS) increased the diagnostic rate by quite 17% . The high rate of undiagnosed cases is said to a minimum of two important limitations: the catalog of Mendelian phenotypes is so far faraway from complete ; and although the interpretation of protein-coding regions of the genome is reliable, our understanding of non-coding variation and its functional interpretation remains limited. During the past years, the importance of RNA-seq as a clinical diagnostic tool has increased. the likelihood to research new sorts of potential pathological variants in clinical routine has led to a rise within the diagnostic rate without an excessive increment in cost or time. However, some problems with RNA-seq analysis must be resolved to make sure the diagnostic quality of the study.    

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