RNA-Seq Perspectives to Improve Clinical Diagnosis
Abstract
In recent years, high-throughput next-generation sequencing technology has allowed a rapid increase in diagnostic capacity and precision through different bioinformatics processing algorithms, tools and pipelines. The identification, annotation and classification of sequence variants within different target regions are now considered a gold standard in clinical genetic diagnosis. However, this procedure lacks the ability to link regulatory...
Paper Details
Title
RNA-Seq Perspectives to Improve Clinical Diagnosis
Published Date
Nov 12, 2019
Journal
Volume
10
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