Increased automation reduces turnaround time for submissions to ClinVar

Genetics in Medicine(2022)

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摘要
Submissions to ClinVar increase each year. Today, the database holds more than 1.8 million submitted records representing 1.1 million variants. Most data are submitted to ClinVar in batches of many records. Submission processing includes several types of data validation, including verifying that minimal fields for submission are included; validating the variant description; and confirming that allowed values are provided for other fields like the interpretation of the variant. Prior to 2021, all submissions required a curator to shepherd the submission through the validation and processing steps and return errors to the submitter.
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