Liudmila Sergeevna Mainzer

This paper evaluates workflow management systems for genomics research and clinical use, comparing their features and suitability across different environments and use cases.

VarSAn identifies disease-relevant pathways from genomic variants using network analysis, showing complementary results to gene-based enrichment tests.

This study compares the accuracy and performance of Sentieon DNASeq and GATK for single-sample variant calling, finding they are nearly identical in accuracy with Sentieon being faster and more scalable.

The paper describes a Swift/T wrapper for the GATK variant calling workflow to improve portability and maintainability across cluster environments.

This study benchmarks GATK3.8 and GATK4 to evaluate performance improvements and cost trade-offs in genomic variant calling.