Explorations to improve the completeness of exome sequencing

BACKGROUND: Exome sequencing has advanced to clinical practice and proven useful for obtaining molecular diagnoses in rare diseases. In approximately 75 % of cases, however, a clinical exome study does not produce a definitive molecular diagnosis. These residual cases comprise a new diagnostic chall...

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Detalles Bibliográficos
Autores principales: Du, Chen, Pusey, Barbara N., Adams, Christopher J., Lau, C. Christopher, Bone, William P., Gahl, William A., Markello, Thomas C., Adams, David R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Debate
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5002202/
https://www.ncbi.nlm.nih.gov/pubmed/27568008
http://dx.doi.org/10.1186/s12920-016-0216-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5002202/
https://www.ncbi.nlm.nih.gov/pubmed/27568008
http://dx.doi.org/10.1186/s12920-016-0216-3

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