Positioning whole exome sequencing in the diagnostic pathway for rare disease to optimise utility: a protocol for an observational cohort study and an economic evaluation

INTRODUCTION: Despite the superior diagnostic performance of exome and genome sequencing compared with conventional genetic tests, evidence gaps related to clinical utility and cost effectiveness have limited their availability in routine clinical practice in many jurisdictions. To inform adoption a...

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Detalles Bibliográficos
Autores principales: Hayeems, Robin Z, Bernier, Francois, Boycott, Kym M, Hartley, Taila, Michaels-Igbokwe, Christine, Marshall, Deborah A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Genetics and Genomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9557316/
https://www.ncbi.nlm.nih.gov/pubmed/36216418
http://dx.doi.org/10.1136/bmjopen-2022-061468

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9557316/
https://www.ncbi.nlm.nih.gov/pubmed/36216418
http://dx.doi.org/10.1136/bmjopen-2022-061468

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