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

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

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2845498347

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

About this item

Full title

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

Author / Creator

Publisher

United States: Public Library of Science

Journal title

PloS one, 2023-08, Vol.18 (8), p.e0288371-e0288371

Language

English

Formats

Publication information

Publisher

United States: Public Library of Science

More information

Scope and Contents

Contents

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...

Alternative Titles

Full title

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

Authors, Artists and Contributors

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_plos_journals_2845498347

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2845498347

Other Identifiers

ISSN

1932-6203

E-ISSN

1932-6203

DOI

10.1371/journal.pone.0288371

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