Trio exome sequencing is highly relevant in prenatal diagnostics

OBJECTIVE: About 3% of newborns show malformations, with about 20% of the affected having genetic causes. Clarification of genetic diseases in postnatal diagnostics was significantly improved with high‐throughput sequencing, in particular through whole exome sequencing covering all protein‐coding re...

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Detalles Bibliográficos
Autores principales: Gabriel, Heinz, Korinth, Dirk, Ritthaler, Martin, Schulte, Björn, Battke, Florian, von Kaisenberg, Constantin, Wüstemann, Max, Schulze, Bernt, Friedrich‐Freksa, Almuth, Pfeiffer, Lutz, Entezami, Michael, Schröer, Andreas, Bürger, Joachim, Schwaibold, Eva Maria Christina, Lebek, Holger, Biskup, Saskia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Fetal Sequencing: Progress, Challenges and the Future (Part 2)
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9305182/
https://www.ncbi.nlm.nih.gov/pubmed/34958143
http://dx.doi.org/10.1002/pd.6081

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9305182/
https://www.ncbi.nlm.nih.gov/pubmed/34958143
http://dx.doi.org/10.1002/pd.6081

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