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Variability in pathogenicity prediction programs: impact on clinical diagnostics

Current practice by clinical diagnostic laboratories is to utilize online prediction programs to help determine the significance of novel variants in a given gene sequence. However, these programs vary widely in their methods and ability to correctly predict the pathogenicity of a given sequence cha...

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Detalles Bibliográficos
Autores principales:	Walters-Sen, Lauren C, Hashimoto, Sayaka, Thrush, Devon Lamb, Reshmi, Shalini, Gastier-Foster, Julie M, Astbury, Caroline, Pyatt, Robert E
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BlackWell Publishing Ltd 2015
Materias:	Method
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4367082/ https://www.ncbi.nlm.nih.gov/pubmed/25802880 http://dx.doi.org/10.1002/mgg3.116

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