resource source identifier software Search Results


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FOSS GmbH free and open-source software resources
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90
ClinGen Resource open-source database and software
Components of the framework for routine reinterpretation of individual genetic variants.
Open Source Database And Software, supplied by ClinGen Resource, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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GraphPad Software Inc reagent or resource source identifier software and algorithms graphpad prism
Components of the framework for routine reinterpretation of individual genetic variants.
Reagent Or Resource Source Identifier Software And Algorithms Graphpad Prism, supplied by GraphPad Software Inc, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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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