Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease

CONTEXT: Genetic testing is increasingly used for clinical diagnosis, although variant interpretation presents a major challenge because of high background rates of rare coding-region variation, which may contribute to inaccurate estimates of variant pathogenicity and disease penetrance. OBJECTIVE:...

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Detalles Bibliográficos
Autores principales: Newey, Paul J., Berg, Jonathan N., Zhou, Kaixin, Palmer, Colin N.A., Thakker, Rajesh V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2017
Materias:
Clinical Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740525/
https://www.ncbi.nlm.nih.gov/pubmed/29308445
http://dx.doi.org/10.1210/js.2017-00330

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740525/
https://www.ncbi.nlm.nih.gov/pubmed/29308445
http://dx.doi.org/10.1210/js.2017-00330

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