A scoping review and proposed workflow for multi-omic rare disease research

BACKGROUND: Patients with rare diseases face unique challenges in obtaining a diagnosis, appropriate medical care and access to support services. Whole genome and exome sequencing have increased identification of causal variants compared to single gene testing alone, with diagnostic rates of approxi...

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Detalles Bibliográficos
Autores principales: Kerr, Katie, McAneney, Helen, Smyth, Laura J., Bailie, Caitlin, McKee, Shane, McKnight, Amy Jayne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7189570/
https://www.ncbi.nlm.nih.gov/pubmed/32345347
http://dx.doi.org/10.1186/s13023-020-01376-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7189570/
https://www.ncbi.nlm.nih.gov/pubmed/32345347
http://dx.doi.org/10.1186/s13023-020-01376-x

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