Lessons learnt from prenatal exome sequencing

BACKGROUND: Prenatal exome sequencing (ES) for monogenic disorders in fetuses with structural anomalies increases diagnostic yield. In England there is a national trio ES service delivered from two laboratories. To minimise incidental findings and reduce the number of variants investigated, analysis...

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Detalles Bibliográficos
Autores principales: Chandler, Natalie J., Scotchman, Elizabeth, Mellis, Rhiannon, Ramachandran, Vijaya, Roberts, Rowenna, Chitty, Lyn S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Fetal Sequencing: Progress, Challenges and the Future (Part 2)
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9325487/
https://www.ncbi.nlm.nih.gov/pubmed/35506549
http://dx.doi.org/10.1002/pd.6165

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9325487/
https://www.ncbi.nlm.nih.gov/pubmed/35506549
http://dx.doi.org/10.1002/pd.6165

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