Guidelines for diagnostic next-generation sequencing

We present, on behalf of EuroGentest and the European Society of Human Genetics, guidelines for the evaluation and validation of next-generation sequencing (NGS) applications for the diagnosis of genetic disorders. The work was performed by a group of laboratory geneticists and bioinformaticians, an...

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Vydáno v:Eur J Hum Genet
Hlavní autoři: Matthijs, Gert, Souche, Erika, Alders, Mariëlle, Corveleyn, Anniek, Eck, Sebastian, Feenstra, Ilse, Race, Valérie, Sistermans, Erik, Sturm, Marc, Weiss, Marjan, Yntema, Helger, Bakker, Egbert, Scheffer, Hans, Bauer, Peter
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2016
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Policy
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795226/
https://ncbi.nlm.nih.gov/pubmed/26508566
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.226
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