UMD‐Predictor: A High‐Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

Whole‐exome sequencing (WES) is increasingly applied to research and clinical diagnosis of human diseases. It typically results in large amounts of genetic variations. Depending on the mode of inheritance, only one or two correspond to pathogenic mutations responsible for the disease and present in...

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Detalles Bibliográficos
Autores principales: Salgado, David, Desvignes, Jean‐Pierre, Rai, Ghadi, Blanchard, Arnaud, Miltgen, Morgane, Pinard, Amélie, Lévy, Nicolas, Collod‐Béroud, Gwenaëlle, Béroud, Christophe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Informatics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5067603/
https://www.ncbi.nlm.nih.gov/pubmed/26842889
http://dx.doi.org/10.1002/humu.22965

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5067603/
https://www.ncbi.nlm.nih.gov/pubmed/26842889
http://dx.doi.org/10.1002/humu.22965

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