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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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Detalhes bibliográficos
Publicado no:NIHR Open Res
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: F1000 Research Limited 2022
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Acesso em linha: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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