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Article

Evaluation of an optimized germline exomes pipeline using BWA-MEM2 and Dragen-GATK tools.

PloS one - 1 Jan 2023

Alganmi Nofe, Abusamra Heba

Abstract excerpt

The next-generation sequencing (NGS) technology represents a significant advance in genomics and medical diagnosis. Nevertheless, the time it takes to perform sequencing, data analysis, and variant interpretation is a bottleneck in using next-generation sequencing in precision medicine. For accurate and efficient performance in clinical diagnostic lab practice, a consistent data analysis pipeline is necessary to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37535628
DOI: 10.1371/journal.pone.0288371
PMCID: PMC10399881

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