Guidelines for diagnostic next-generation sequencing

@inproceedings{Matthijs2016GuidelinesFD,
  title={Guidelines for diagnostic next-generation sequencing},
  author={Gert Matthijs and Erika L. Souche and Mari{\"e}lle Alders and Anniek Corveleyn and Sebastian Eck and Ilse Feenstra and Val{\'e}rie Race and Erik A Sistermans and Marc Sturm and Marjan M. Weiss and Helger G. Yntema and Egbert J. Bakker and Hans Scheffer and Peter Bauer},
  booktitle={European Journal of Human Genetics},
  year={2016}
}
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, 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… CONTINUE READING

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