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Article

Comparison of calling pipelines for whole genome sequencing: an empirical study demonstrating the importance of mapping and alignment.

Scientific reports - 13 Dec 2022

Betschart Raphael O, Thiéry Alexandre, Aguilera-Garcia Domingo, Zoche Martin, Moch Holger, Twerenbold Raphael, Zeller Tanja, Blankenberg Stefan, Ziegler Andreas

Abstract excerpt

Rapid advances in high-throughput DNA sequencing technologies have enabled the conduct of whole genome sequencing (WGS) studies, and several bioinformatics pipelines have become available. The aim of this study was the comparison of 6 WGS data pre-processing pipelines, involving two mapping and alignment approaches (GATK utilizing BWA-MEM2 2.2.1, and DRAGEN 3.8.4) and three variant calling pipelines (GATK...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36513709
DOI: 10.1038/s41598-022-26181-3
PMCID: PMC9748128

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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