A literature review at genome scale: improving clinical variant assessment

PURPOSE: Over 150,000 variants have been reported to cause Mendelian disease in the medical literature. It is still difficult to leverage this knowledge base in clinical practice as many reports lack strong statistical evidence or may include false associations. Clinical laboratories assess whether...

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Detalles Bibliográficos
Autores principales: Cassa, Christopher A., Jordan, Daniel M., Adzhubei, Ivan, Sunyaev, Shamil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6070443/
https://www.ncbi.nlm.nih.gov/pubmed/29388949
http://dx.doi.org/10.1038/gim.2017.230

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6070443/
https://www.ncbi.nlm.nih.gov/pubmed/29388949
http://dx.doi.org/10.1038/gim.2017.230

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