Mendel,MD: A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders

Whole exome and whole genome sequencing have both become widely adopted methods for investigating and diagnosing human Mendelian disorders. As pangenomic agnostic tests, they are capable of more accurate and agile diagnosis compared to traditional sequencing methods. This article describes new softw...

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Detalles Bibliográficos
Autores principales: G. C. C. L. Cardenas, Raony, D. Linhares, Natália, L. Ferreira, Raquel, Pena, Sérgio D. J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5464533/
https://www.ncbi.nlm.nih.gov/pubmed/28594829
http://dx.doi.org/10.1371/journal.pcbi.1005520

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