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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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Dettagli Bibliografici
Pubblicato in:PLoS Comput Biol
Autori principali: G. C. C. L. Cardenas, Raony, D. Linhares, Natália, L. Ferreira, Raquel, Pena, Sérgio D. J.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2017
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5464533/
https://ncbi.nlm.nih.gov/pubmed/28594829
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pcbi.1005520
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