Aug 2026
A Comprehensive Integrated Pipeline for Detection and Annotation of Variants in Whole Exome Sequencing Data.
The developed Snakemake pipeline covers the entire WES analysis workflow, from initial quality control and pre-processing of raw sequencing data to final variant calling and annotation, and will significantly improve accuracy in identifying clinically relevant genetic variants.
K. Karuppusamy, Shobana Sundar
· Molecular Biotechnology · 0 citations