| Literature DB >> 35669050 |
Kleio-Maria Verrou1, Georgios A Pavlopoulos1,2, Panagiotis Moulos1,2.
Abstract
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.Entities:
Keywords: Bioinformatics; Genetics; Genomics
Mesh:
Year: 2022 PMID: 35669050 PMCID: PMC9163752 DOI: 10.1016/j.xpro.2022.101418
Source DB: PubMed Journal: STAR Protoc ISSN: 2666-1667