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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書誌詳細
出版年:NIHR Open Res
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: F1000 Research Limited 2022
主題:
Study Protocol
オンライン･アクセス: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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