Benchmarking workflows to assess performance and suitability of germline variant calling pipelines in clinical diagnostic assays.
Vandhana Krishnan, Sowmi Utiramerur, Zena Ng, Somalee Datta, Michael P. Snyder, Euan Angus Ashley
The paper benchmarks germline variant calling pipelines in clinical assays using cloud-based workflows and GIAB reference samples to evaluate performance across genomic regions and variant types.
BMC Bioinformatics · Feb 24, 2021Peer-reviewedBioinformatics