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. Author manuscript; available in PMC: 2024 Jun 1.
Published in final edited form as: Nat Genet. 2023 Jun;55(6):901–903. doi: 10.1038/s41588-023-01414-x

Table 1. LitVar has been widely accessed millions of times by various users from the research community and the clinical testing laboratories.

Based on what has been reported in the cited articles and direct user input, we have summarized some of the main use cases of the LitVar system, ranging from assisting variant identification/interpretation/curation5,6, to facilitating in-silico variant annotation in genomics/bioinformatics research7,8, to supporting precision medicine in clinical research/patient care9.

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).