Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service

BACKGROUND: Prenatal exome sequencing (ES) for the diagnosis of fetal anomalies was implemented nationally in England in October 2020 by the NHS Genomic Medicine Service (GMS). is the GMS is based around seven regional Genomic Laboratory Hubs (GLHs). Prenatal ES has the potential to significantly im...

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Veröffentlicht in:NIHR Open Res
Hauptverfasser: Hill, Melissa, Ellard, Sian, Fisher, Jane, Fulop, Naomi, Knight, Marian, Kroese, Mark, Ledger, Jean, Leeson-Beevers, Kerry, McEwan, Alec, McMullan, Dominic, Mellis, Rhiannon, Morris, Stephen, Parker, Michael, Tapon, Dagmar, Baple, Emma, Blackburn, Laura, Choudry, Asya, Lafarge, Caroline, McInnes-Dean, Hannah, Peter, Michelle, Ramakrishnan, Rema, Roberts, Lauren, Searle, Beverly, Smith, Emma, Walton, Holly, Wynn, Sarah L., Han Wu, Wing, Chitty, Lyn S.
Format: Artigo
Sprache:Inglês
Veröffentlicht: F1000 Research Limited 2022
Schlagworte:
Study Protocol
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7613246/
https://ncbi.nlm.nih.gov/pubmed/35935673
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3310/nihropenres.13247.2
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