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Novel bioinformatics quality control metric for next-generation sequencing experiments in the clinical context

As the use of next-generation sequencing (NGS) for the Mendelian diseases diagnosis is expanding, the performance of this method has to be improved in order to achieve higher quality. Typically, performance measures are considered to be designed in the context of each application and, therefore, acc...

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Bibliografiske detaljer
Udgivet i:Nucleic Acids Res
Main Authors: Ivanov, Maxim, Ivanov, Mikhail, Kasianov, Artem, Rozhavskaya, Ekaterina, Musienko, Sergey, Baranova, Ancha, Mileyko, Vladislav
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2019
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6868350/
https://ncbi.nlm.nih.gov/pubmed/31511888
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkz775
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