Recommendations to Researchers

ACMG clinical laboratory standards for next-generation sequencing

ACMG standards“Next-generation sequencing technologies have been and continue to be deployed in clinical laboratories, enabling rapid transformations in genomic medicine. […] To assist clinical laboratories with the validation of next-generation sequencing methods and platforms, the ongoing monitoring of next-generation sequencing testing to ensure quality results, and the interpretation and reporting of variants found using these technologies, the American College of Medical Genetics and Genomics has developed the following professional standards and guidelines.”

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ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

ACMG recommendations“This guideline is designed primarily as an educational resource for medical geneticists and other health care providers to help them provide quality medical genetic services.[…] The ACMG appointed a Working Group on Incidental Findings in Clinical Exome and Genome Sequencing to make recommendations about responsible management of incidental findings when patients undergo exome or genome sequencing. This Working Group conducted a year-long consensus process, including review by outside experts, and produced recommendations.”

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Data sharing in large research consortia: experiences and recommendations from ENGAGE

Engage“This paper provides results from a survey conducted in the European Network for Genetic and Genomic Epidemiology (ENGAGE) that collected information from its participating institutions about their data-sharing experiences. The questionnaire queried about potential hurdles to data sharing, concerns about data sharing, lessons learned and recommendations for future collaborations.”

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