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

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...

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Detalles Bibliográficos
Autores principales: Alganmi, Nofe, Abusamra, Heba
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10399881/
https://www.ncbi.nlm.nih.gov/pubmed/37535628
http://dx.doi.org/10.1371/journal.pone.0288371

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10399881/
https://www.ncbi.nlm.nih.gov/pubmed/37535628
http://dx.doi.org/10.1371/journal.pone.0288371

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