Implementation of Exome Sequencing in Prenatal Diagnostics: Chances and Challenges

Whole exome sequencing (WES) has become part of the postnatal diagnostic work-up of both pediatric and adult patients with a range of disorders. In the last years, WES is slowly being implemented in the prenatal setting as well, although some hurdles remain, such as quantity and quality of input mat...

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Detalles Bibliográficos
Autores principales: Janicki, Ewa, De Rademaeker, Marjan, Meunier, Colombine, Boeckx, Nele, Blaumeiser, Bettina, Janssens, Katrien
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10000387/
https://www.ncbi.nlm.nih.gov/pubmed/36900003
http://dx.doi.org/10.3390/diagnostics13050860

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10000387/
https://www.ncbi.nlm.nih.gov/pubmed/36900003
http://dx.doi.org/10.3390/diagnostics13050860

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