A High-Accuracy Computational Pipeline for Mutation Detection, Thermodynamic Stability Analysis, and Zygosity Classification in Genomic Sequences
Abstract
The accurate identification of genetic variants from sequencing data is fundamental to personalized medicine, evolutionary biology, and genetic research. While many tools exist for variant calling, a comprehensive pipeline that integrates mutation detection with a rigorous, multi-model assessment of thermodynamic stability and accurate zygosity determination is highly desirable.
Fields of Study & Subjects
Genomics and Phylogenetic Studies
Genomics and Rare Diseases
Cancer Genomics and Diagnostics
Publication details
- Journal / source
- Zenodo (CERN European Organization for Nuclear Research)
- Publication date
- 27 February 2026
- Language
- EN