Table 1. LitVar has been widely accessed millions of times by various users from the research community and the clinical testing laboratories.
Use Cases | Description/Example |
---|---|
Variant Identification | Locating all previously reported variants of a target gene. |
Variant Interpretation | Searching for published information about a variant of interest (e.g., finding variant-related disease information). |
Variant Curation | Assisting manual variant curation and classification (e.g., speeding up variant curation in ClinGen). |
Bioinformatics and Genomics | Facilitating in-silico variant annotation for genetic disease analysis (e.g., LitVar data is integrated by other computational methods for in-depth variant analysis). |
Clinical Research and Care | Supporting precision medicine research and patient care (e.g., helping variant evaluation within the context of molecular tumor boards). |