Exploring the RNA Gap for Improving Diagnostic Yield in Primary Immunodeficiencies

Challenges in diagnosing primary immunodeficiency are numerous and diverse, with current whole-exome and whole-genome sequencing approaches only able to reach a molecular diagnosis in 25–60% of cases. We assess these problems and discuss how RNA-focused analysis has expanded and improved in recent y...

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Detalles Bibliográficos
Autores principales: Lye, Jed J., Williams, Anthony, Baralle, Diana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6917654/
https://www.ncbi.nlm.nih.gov/pubmed/31921280
http://dx.doi.org/10.3389/fgene.2019.01204

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6917654/
https://www.ncbi.nlm.nih.gov/pubmed/31921280
http://dx.doi.org/10.3389/fgene.2019.01204

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