Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies

Next generation sequencing (NGS) can detect carrier status for rare recessive disorders, informing couples about their reproductive risk. The recent ACMG recommendations support offering NGS-based carrier screening (NGS-CS) in an ethnic and population-neutral manner for all genes that have a carrier...

Descripción completa

Detalles Bibliográficos
Autores principales: Vintschger, Ella, Kraemer, Dennis, Joset, Pascal, Horn, Anselm H. C., Rauch, Anita, Sticht, Heinrich, Bachmann-Gagescu, Ruxandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10400553/
https://www.ncbi.nlm.nih.gov/pubmed/36550190
http://dx.doi.org/10.1038/s41431-022-01267-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10400553/
https://www.ncbi.nlm.nih.gov/pubmed/36550190
http://dx.doi.org/10.1038/s41431-022-01267-8

Ejemplares similares