Guidelines for diagnostic next-generation sequencing

Guidelines for the evaluation and validation of next-generation sequencing (NGS) applications for the diagnosis of genetic disorders has been published in . The work was done on behalf of EuroGentest and the European Society of Human Genetics, with input from relevant stakholders. They include many examples to assist the laboratories in the implementation of NGS and accreditation of this service. According to the publication “the guidelines and statements have been applauded by the genetic diagnostic community, and thus seem to be valuable for the harmonisation and quality assurance of NGS diagnostics in Europe.”
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(source: Orphanews 22 March 2016)