Archivio istituzionale della ricerca dell'Università degli Studi di Palermo
IRIS è il sistema di gestione integrata dei dati della ricerca (persone, pubblicazioni, progetti, attività) adottato dall’Università di Palermo, e ha lo scopo di raccogliere, conservare, documentare, e diffondere ad accesso aperto le informazioni relative alla produzione scientifica degli autori afferenti all’Ateneo.
EnglishAdvances in DNA sequencing technologies through Next Generation Sequencing (NGS) approaches have enabled genome-wide discovery of chromosomal copy-number variants and single-nucleotide changes. NGS technologies are rapidly expanding our ability to identify and better define disease-causing mutations and genotype-phenotype correlation. Pediatric patients may particularly benefit from the introduction of these new technologies. Pediatricians must keep up with all these new skills, both in their residency programs as well as in their continuing medical education programs.
Giuffrè, M., Piro, E., Antona, V., & Corsello, G. (2018). WIDENING THE SCOPE OF NEXT GENERATION SEQUENCING APPLICATIONS IN PEDIATRIC MEDICAL GENETICS. EUROMEDITERRANEAN BIOMEDICAL JOURNAL, 13(17), 80-81.
| Data di pubblicazione: | 2018 |
| Titolo: | WIDENING THE SCOPE OF NEXT GENERATION SEQUENCING APPLICATIONS IN PEDIATRIC MEDICAL GENETICS |
| Autori: | |
| Citazione: | Giuffrè, M., Piro, E., Antona, V., & Corsello, G. (2018). WIDENING THE SCOPE OF NEXT GENERATION SEQUENCING APPLICATIONS IN PEDIATRIC MEDICAL GENETICS. EUROMEDITERRANEAN BIOMEDICAL JOURNAL, 13(17), 80-81. |
| Rivista: | |
| Digital Object Identifier (DOI): | http://dx.doi.org/10.3269/1970-5492.2018.13.17 |
| Abstract: | Advances in DNA sequencing technologies through Next Generation Sequencing (NGS) approaches have enabled genome-wide discovery of chromosomal copy-number variants and single-nucleotide changes. NGS technologies are rapidly expanding our ability to identify and better define disease-causing mutations and genotype-phenotype correlation. Pediatric patients may particularly benefit from the introduction of these new technologies. Pediatricians must keep up with all these new skills, both in their residency programs as well as in their continuing medical education programs. |
| URL: | http://www.embj.org/ |
| Appare nelle tipologie: | 1.01 Articolo in rivista |
File in questo prodotto:
| File | Descrizione | Tipologia | Licenza | |
|---|---|---|---|---|
| EMBJ 2018.pdf | articolo principale | N/A | Open Access Visualizza/Apri |
Copyright © 2020