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Guidelines for diagnostic next-generation sequencing

28 Oct 2015

Abstract excerpt

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...

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PMID: 26508566
DOI: 10.1038/ejhg.2015.226

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