Variant calling pipelines for whole exome sequencing in clinical context
Johanna Stepanian, Diego Saldaña, Daniel Mahecha, Laura Mazabel, Jorge Diaz
This study evaluates 24 variant calling pipelines for whole exome sequencing in two samples, finding BWA with Strelka as the most accurate and fastest for SNV detection.
medRxiv · Oct 18, 2024 · PreprintGenetic & Genomic Medicine