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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Pubblicato in:NIHR Open Res
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: F1000 Research Limited 2022
Soggetti:
Study Protocol
Accesso online: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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