Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Article Title: Practical Considerations for Reinterpretation of Individual Genetic Variants
doi: 10.1016/j.gim.2023.100801
Figure Lengend Snippet: Components of the framework for routine reinterpretation of individual genetic variants.
Article Snippet: Infrastructure Needed to Support Implementation , • Development of open-source database and software supported by ClinGen and ClinVar to allow for affordable and automated ways of identifying variants with new data and with classifications by other laboratories • Laboratories’ building and maintenance of databases of their own variants and interpretations, contributing data to ClinVar, and establishing parameters that trigger variant reinterpretation • Standardized data model of variant-level information, including variants and variant metadata, to automate identification of variants with discrepant interpretations and aggregate evidence to support reinterpretation.
Techniques: Software, Variant Assay