Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results

PURPOSE: Detection of all major classes of genomic variants in a single test would decrease cost and increase the efficiency of genomic diagnostics. Genome sequencing (GS) has the potential to provide this level of comprehensive detection. We sought to demonstrate the utility of GS in the molecular...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Genet Med
Hauptverfasser: Rajagopalan, Ramakrishnan, Gilbert, Melissa A., McEldrew, Deborah A., Nassur, James A., Loomes, Kathleen M., Piccoli, David A., Krantz, Ian D., Conlin, Laura K., Spinner, Nancy B.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group US 2020
Schlagworte:
Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7862053/
https://ncbi.nlm.nih.gov/pubmed/33077891
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-00989-8
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge