Related Experiment Video
Updated: Sep 20, 2025
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
34.0K
Protocol for unbiased, consolidated variant calling from whole exome sequencing data
Kleio-Maria Verrou1, Georgios A Pavlopoulos1,2, Panagiotis Moulos1,2
1Center of New Biotechnologies & Precision Medicine, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
STAR Protocols
|June 7, 2022
Summary
This study presents a unified protocol for Whole Exome Sequencing (WES) analysis, simplifying complex DNA variant detection. The method integrates multiple variant callers for comprehensive and unbiased results.
Area of Science:
- Genomics
- Bioinformatics
- Molecular Biology
Background:
- Whole Exome Sequencing (WES) is crucial for identifying DNA variants within protein-coding regions.
- Analyzing WES data presents significant challenges due to its inherent complexity.
Purpose of the Study:
- To develop a consolidated and unbiased protocol for Whole Exome Sequencing (WES) analysis.
- To simplify the complex process of DNA variant detection from exome data.
Main Methods:
- The protocol integrates three distinct variant callers: HaplotypeCaller, FreeBayes, and DeepVariant.
- Detailed execution steps are provided for each stage of the analysis pipeline.
- Includes basic variant filtering, annotation, and visualization techniques.
Main Results:
- A streamlined and unbiased protocol for WES data analysis.
- Demonstrates the consolidation of results from multiple variant callers.
- Provides a comprehensive workflow from raw data to variant interpretation.
Conclusions:
- The developed protocol offers a standardized approach to Whole Exome Sequencing analysis.
- Facilitates more robust and reproducible DNA variant discovery.
- Aims to overcome the challenges associated with complex WES data interpretation.
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