References in periodicals archive ?
Evidence could also be based on the analysis of data within a CGGD, with comments and edits from users of the database, as long as the lack of peer review is a searchable field.
A variant that has unknown significance on submission to a CGGD may be proven later to be benign or pathogenic.
Although the primary use of a CGGD is to guide care of individual patients, a further consideration in data retrieval from GMEDs (layer 3) is whether the patient's clinical phenotype should be layered across the full database of patient phenotypes.
The goal of this article is to provide an overview of the issues and standards to be considered when creating a CGGD. National and international efforts are underway to create comprehensive genomic databases, such as ClinGen and the Human Variome Project International (Victoria Australia).
Layers of a clinical grade genomic database (CGGD).
Abbreviations: CGGD, clinical grade genomic database; CGVR, clinical genomic variant repository; GMED, genomic medicine evidence database; GMDR, genomic medical data repository.
To achieve practical utility, CGGDs should be easy to access.
The work group defined 3 layers of information for CGGDs: clinical genomic variant repositories (CGVRs), genomic medical data repositories (GMDRs), and genomic medicine evidence databases (GMEDs).
Metadata regarding the specimen, the laboratory testing process, and bioinformatics process should be included in all CGGDs. Metadata about the specimen may include specimen type (blood, prostate, kidney, lung, and other types), specimen preparation (fresh; frozen; formalin-fixed, paraffin-embedded, among others), the species from which the specimen was obtained, the time between collection and fixation or processing, and the percentage of reads with a variant.
Acronyms browser ?
Full browser ?
- CGG sequence