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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...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:PLoS Comput Biol
Päätekijät: G. C. C. L. Cardenas, Raony, D. Linhares, Natália, L. Ferreira, Raquel, Pena, Sérgio D. J.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Public Library of Science 2017
Aiheet:
Linkit: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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