Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario

BACKGROUND: Genome-wide sequencing has emerged as a promising strategy for the timely diagnosis of rare diseases, but it is not yet available as a clinical test performed in Canadian diagnostic laboratories. We describe the protocol for evaluating a 2-year pilot project, Genome-wide Sequencing Ontar...

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Detalles Bibliográficos
Autores principales: Hayeems, Robin Z., Marshall, Christian R., Gillespie, Meredith K., Szuto, Anna, Chisholm, Caitlin, Stavropoulos, Dimitri J., Venkataramanan, Viji, Tsiplova, Kate, Sawyer, Sarah, Price, E. Magda, Lau, Lynette, Khan, Reem, Lee, Whiwon, Huang, Lijia, Jarinova, Olga, Ungar, Wendy J., Mendoza-Londono, Roberto, Somerville, Martin J., Boycott, Kym M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: CMA Impact Inc. 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259466/
https://www.ncbi.nlm.nih.gov/pubmed/35609929
http://dx.doi.org/10.9778/cmajo.20210272

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259466/
https://www.ncbi.nlm.nih.gov/pubmed/35609929
http://dx.doi.org/10.9778/cmajo.20210272

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