Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

PURPOSE: Genome sequencing (GS) for diagnosis of rare genetic disease is being introduced into the clinic, but the complexity of the data poses challenges for developing pipelines with high diagnostic sensitivity. We evaluated the performance of the Genomics England 100,000 Genomes Project (100kGP)...

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Detalles Bibliográficos
Autores principales: Hyder, Zerin, Calpena, Eduardo, Pei, Yang, Tooze, Rebecca S., Brittain, Helen, Twigg, Stephen R. F., Cilliers, Deirdre, Morton, Jenny E. V., McCann, Emma, Weber, Astrid, Wilson, Louise C., Douglas, Andrew G. L., McGowan, Ruth, Need, Anna, Bond, Andrew, Tavares, Ana Lisa Taylor, Thomas, Ellen R. A., Hill, Susan L., Deans, Zandra C., Boardman-Pretty, Freya, Caulfield, Mark, Scott, Richard H., Wilkie, Andrew O. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8629760/
https://www.ncbi.nlm.nih.gov/pubmed/34429528
http://dx.doi.org/10.1038/s41436-021-01297-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8629760/
https://www.ncbi.nlm.nih.gov/pubmed/34429528
http://dx.doi.org/10.1038/s41436-021-01297-5

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