Protocol for unbiased, consolidated variant calling from whole exome sequencing data

STAR Protocols

Panagiotis Moulos¹  Georgios A. Pavlopoulos²  Kleio-Maria Verrou³ 

[1] Corresponding author;Precision Medicine, Medical School, National and Kapodistrian University of Athens, Athens, Greece;;Center of New Biotechnologies &

关键词: Bioinformatics;    Genetics;    Genomics;   

DOI  :  

来源: DOAJ

【 摘 要 】

Summary: Whole Exome Sequencing (WES) is used for querying DNA variants using the protein coding parts of genomes (exomes). However, WES analysis can be challenging because of the complexity of the data. Here, we describe a consolidated protocol for unbiased WES analysis. The protocol uses three variant callers (HaplotypeCaller, FreeBayes, and DeepVariant), which have different underlying models. We provide detailed execution steps, as well as basic variant filtering, annotation, visualization, and consolidation aspects. : Publisher’s note: Undertaking any experimental protocol requires adherence to local institutional guidelines for laboratory safety and ethics.

【 授权许可】

Unknown