Variant Calling: Methods and Protocols (Methods in Molecular Biology Book 2493)

Accelerate your genomic research with Variant Calling: Methods and Protocols (Methods in Molecular Biology, Vol. 2493)—a must-have guide for scientists working in next-generation sequencing (NGS), bioinformatics, clinical genomics, and precision medicine. This comprehensive volume delivers step-by-step, reproducible protocols for identifying genetic variants from sequencing data, including single nucleotide variants (SNVs), insertions and deletions (indels), structural variants, and copy number variations.

As part of the globally respected Methods in Molecular Biology series by Springer, this book combines practical laboratory and computational workflows, allowing researchers to master all key stages of the variant calling pipeline—from data preparation to quality control, algorithm selection, annotation, and interpretation.

Written by leading experts in genomics and bioinformatics, the book includes hands-on protocols, ready-to-use scripts, and troubleshooting insights, making it ideal for both new learners and experienced bioinformaticians.

Key Features:

  • Comprehensive protocols for variant detection using NGS technologies

  • Includes GATK, SAMtools, BCFtools, FreeBayes, DeepVariant, and other tools

  • Chapters on variant annotation, filtering, visualization, and interpretation

  • Covers WGS, WES, targeted sequencing, and cancer genomics

  • Hands-on methods for germline and somatic variant analysis

  • Includes command-line workflows and computational setup guidelines

This book is essential for researchers working on human genetics, cancer research, rare diseases, population genomics, and personalized medicine.