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 |