Ontology highlight
ABSTRACT:
SUBMITTER: Yubero D
PROVIDER: S-EPMC4887012 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Yubero Dèlia D Brandi Núria N Ormazabal Aida A Garcia-Cazorla Àngels À Pérez-Dueñas Belén B Campistol Jaime J Ribes Antonia A Palau Francesc F Artuch Rafael R Armstrong Judith J
PloS one 20160531 5
<h4>Background</h4>Next-generation sequencing (NGS) technology has allowed the promotion of genetic diagnosis and are becoming increasingly inexpensive and faster. To evaluate the utility of NGS in the clinical field, a targeted genetic panel approach was designed for the diagnosis of a set of inborn errors of metabolism (IEM). The final aim of the study was to compare the findings for the diagnostic yield of NGS in patients who presented with consistent clinical and biochemical suspicion of IEM ...[more]