Guidelines for utilisation of next-generation sequencing approaches in genetic diagnostics have been published on behalf of EuroGenTest and ESHG
Guidelines for diagnostic next-generation sequencing have been published in European Journal of Human Genetics (EJHG). The document is freely available on the link below:
The publication is accompanied by extended outline of suggested quality metrics and methodologies for NGS approaches and a number of exemplary reports, for both - targeted and whole exome sequencing reports. These are made available as a Supplement to the EJHG manuscript.