Table1

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

SourceTitleContent summaryReference
New York State Board of Health"Next Generation" Sequencing (NGS) guidelines for somatic genetic variant detectionDetailed standards for technical validity11
ACMGStandards and guidelines for the interpretation of sequence VariantsGuidelines for clinical validity assessment, particularly for germline/constitutional variants12
ACMGACMG clinical laboratory standards for next-generation sequencingBroad summaries of major areas of consideration for clinical validation of all NGS assay13
CDCAssuring the quality of next-generation sequencing in clinical laboratory practiceDetailed recommendations for technical validity assessment/validation of all NGS assays14
CDCGood laboratory practice for clinical next-generation sequencing informatics pipelinesDetailed recommendations for clinical validity assessment for all NGS assays15
Quest Diagnostics (reference laboratory)Annotation of sequence variants in cancer samples processes and pitfalls for routine assays in the clinical laboratoryThe framework for a repeatable workflow for clinical validity assessment in use at a high volume testing facility is described16

ACMG: American College of Medical Genetics and Genomics; CDC: United States Centers for Disease Control and Prevention