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Components of the framework for routine reinterpretation of individual genetic variants.

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

Key online resources.

Journal: PLoS Neglected Tropical Diseases

Article Title: Innovative Approaches to Clinical Data Management in Resource Limited Settings Using Open-Source Technologies

doi: 10.1371/journal.pntd.0003134

Figure Lengend Snippet: Key online resources.

Article Snippet: OpenClinica: open-source database software. , www.openclinica.com.

Techniques: Software