Rare disorders have many faces: in silico characterization of rare disorder spectrum

BACKGROUND: The diagnostic journey for many rare disease patients remains challenging despite use of latest genetic technological advancements. We hypothesize that some patients remain undiagnosed due to more complex diagnostic scenarios that are currently not considered in genome analysis pipelines...

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Detalles Bibliográficos
Autores principales: Frederiksen, Simona D., Avramović, Vladimir, Maroilley, Tatiana, Lehman, Anna, Arbour, Laura, Tarailo-Graovac, Maja
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8864832/
https://www.ncbi.nlm.nih.gov/pubmed/35193637
http://dx.doi.org/10.1186/s13023-022-02217-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8864832/
https://www.ncbi.nlm.nih.gov/pubmed/35193637
http://dx.doi.org/10.1186/s13023-022-02217-9

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