Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

Whole genome sequencing (WGS) improves Mendelian disorder diagnosis over whole exome sequencing (WES); however, additional diagnostic yields and costs remain undefined. We investigated differences between diagnostic and cost outcomes of WGS and WES in a cohort with suspected Mendelian disorders. WGS...

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Detalles Bibliográficos
Autores principales: Ewans, Lisa J., Minoche, Andre E., Schofield, Deborah, Shrestha, Rupendra, Puttick, Clare, Zhu, Ying, Drew, Alexander, Gayevskiy, Velimir, Elakis, George, Walsh, Corrina, Adès, Lesley C., Colley, Alison, Ellaway, Carolyn, Evans, Carey-Anne, Freckmann, Mary-Louise, Goodwin, Linda, Hackett, Anna, Kamien, Benjamin, Kirk, Edwin P., Lipke, Michelle, Mowat, David, Palmer, Elizabeth, Rajagopalan, Sulekha, Ronan, Anne, Sachdev, Rani, Stevenson, William, Turner, Anne, Wilson, Meredith, Worgan, Lisa, Morel-Kopp, Marie-Christine, Field, Michael, Buckley, Michael F., Cowley, Mark J., Dinger, Marcel E., Roscioli, Tony
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9553973/
https://www.ncbi.nlm.nih.gov/pubmed/35970915
http://dx.doi.org/10.1038/s41431-022-01162-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9553973/
https://www.ncbi.nlm.nih.gov/pubmed/35970915
http://dx.doi.org/10.1038/s41431-022-01162-2

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