GermVarX: A Robust Workflow for Joint Germline Variant Exploration in whole-exome sequencing cohorts.

Abstract excerpt

Accurate identification of germline variants from whole-exome sequencing (WES) data is foundational to population genetics, disease association studies, and clinical genomics. However, variant calling across cohorts poses challenges in scalability, consistency, and reproducibility. We present GermVarX, a fully automated, modular workflow for joint germline variant discovery and exploration in WES cohort studies....

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