BioinformaticsScientific ReportsPeer-reviewed
Accuracy and efficiency of germline variant calling pipelines for human genome data
Sen Zhao, Oleg Agafonov, Abdulrahman A. Azab…·Eivind J. Hovig
This study compares three germline variant calling pipelines for WGS data, finding DRAGEN and DeepVariant offer better accuracy with no significant difference in F1-score, while DRAGEN provides higher efficiency.
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