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...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7862053/
https://www.ncbi.nlm.nih.gov/pubmed/33077891
http://dx.doi.org/10.1038/s41436-020-00989-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7862053/
https://www.ncbi.nlm.nih.gov/pubmed/33077891
http://dx.doi.org/10.1038/s41436-020-00989-8

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