A panel-agnostic strategy ‘HiPPo’ improves diagnostic efficiency in the UK Genome Medicine Service

Genome sequencing is now available as a clinical test on the National Health Service (NHS) through the Genome Medicine Service (GMS). The GMS have set out an analytical strategy that predominantly filters genome data on a pre-selected gene panel(s). Whilst this approach reduces the number of variant...

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Detalles Bibliográficos
Autores principales: Seaby, Eleanor G., Thomas, N. Simon, Hunt, David, Baralle, Diana, Rehm, Heidi L., O’Donnell-Luria, Anne, Ennis, Sarah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9915838/
https://www.ncbi.nlm.nih.gov/pubmed/36778464
http://dx.doi.org/10.1101/2023.01.31.23285025

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9915838/
https://www.ncbi.nlm.nih.gov/pubmed/36778464
http://dx.doi.org/10.1101/2023.01.31.23285025

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