Skip to main content
. 2016 Mar;13(1):3–11. doi: 10.28092/j.issn.2095-3941.2016.0004

Table1.

Summary of valuable references and guidelines relevant to clinical NGS oncology testing

Source Title Content summary Reference
ACMG: American College of Medical Genetics and Genomics; CDC: United States Centers for Disease Control and Prevention
New York State Board of Health "Next Generation" Sequencing (NGS) guidelines for somatic genetic variant detection Detailed standards for technical validity 11
ACMG Standards and guidelines for the interpretation of sequence Variants Guidelines for clinical validity assessment, particularly for germline/constitutional variants 12
ACMG ACMG clinical laboratory standards for next-generation sequencing Broad summaries of major areas of consideration for clinical validation of all NGS assay 13
CDC Assuring the quality of next-generation sequencing in clinical laboratory practice Detailed recommendations for technical validity assessment/validation of all NGS assays 14
CDC Good laboratory practice for clinical next-generation sequencing informatics pipelines Detailed recommendations for clinical validity assessment for all NGS assays 15
Quest Diagnostics (reference laboratory) Annotation of sequence variants in cancer samples processes and pitfalls for routine assays in the clinical laboratory The framework for a repeatable workflow for clinical validity assessment in use at a high volume testing facility is described 16