Ontology highlight
ABSTRACT:
SUBMITTER: Marco-Puche G
PROVIDER: S-EPMC6861419 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Marco-Puche Guillermo G Lois Sergio S Benítez Javier J Trivino Juan Carlos JC
Frontiers in genetics 20191112
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 events such as differential splicing to diseases. RNA- ...[more]