Author(s): Bauer, Dr. Peter, MD, Matthijs, Gert, PhD, Souche, Erika, PhD, Alders, Mariëlle, PhD, Corveleyn, Anniek, Eck, Sebastian, Feenstra, Ilse, PhD, Race, Valérie, Sistermans, Erik, PhD, Sturm, Marc, PhD, Weiss, Marjan, PhD, Yntema, Helger, PhD, Bakker, Egbert, PhD, Scheffer, Hans, PhD
Here we present guidelines for the evaluation and validation of next-generation sequencing applications for the diagnosis of genetic disorders. Read more!
The work was performed by a group of laboratory geneticists and bioinformaticians, and discussed with clinical geneticists, industry and patients’ representatives, and other stakeholders in the field of human genetics. The statements that were written during the elaboration of the guidelines are presented here.
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