Editorial: NGS technologies of rare diseases diagnosis

Front Pediatr. 2022 Nov 12:10:1032359. doi: 10.3389/fped.2022.1032359. eCollection 2022.

Authors

María L Couce¹, Emiliano González-Vioque²

Affiliations

¹ Diagnosis and Treatment Unit of Congenital Metabolic Diseases, Department of Paediatrics, University Clinical Hospital of Santiago de Compostela, IDIS, CIBERER, MetabERN, Santiago de Compostela, Spain.
² Molecular Genetics Unit, Clinical Biochemistry Service, University Hospital Puerta de Hierro, Madrid, Spain.

No abstract available

Keywords: DNA SEQUENCING; exome sequencing; genome sequencing; transcriptome; variants.

Publication types

Editorial