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Metapipeline-DNA: A Comprehensive Germline & Somatic Genomics Nextflow Pipeline

Abstract

The price, quality and throughout of DNA sequencing continue to improve. Algorithmic innovations have allowed inference of a growing range of features from DNA sequencing data, quantifying nuclear, mitochondrial and evolutionary aspects of both germline and somatic genomes. To automate analyses of the full range of genomic characteristics, we created an extensible Nextflow meta-pipeline called metapipeline-DNA. Metapipeline-DNA analyzes targeted and whole-genome sequencing data from raw reads through pre-processing, feature detection by multiple algorithms, quality-control and data-visualization. Each step can be run independently and is supported robust software engineering including automated failure-recovery, robust testing and consistent verifications of inputs, outputs and parameters. Metapipeline-DNA is cloud-compatible and highly configurable, with options to subset and optimize each analysis. Metapipeline-DNA facilitates high-scale, comprehensive analysis of DNA sequencing data.

References
1.
Shen R, Seshan V . FACETS: allele-specific copy number and clonal heterogeneity analysis tool for high-throughput DNA sequencing. Nucleic Acids Res. 2016; 44(16):e131. PMC: 5027494. DOI: 10.1093/nar/gkw520. View

2.
Logsdon G, Vollger M, Eichler E . Long-read human genome sequencing and its applications. Nat Rev Genet. 2020; 21(10):597-614. PMC: 7877196. DOI: 10.1038/s41576-020-0236-x. View

3.
Sosinsky A, Ambrose J, Cross W, Turnbull C, Henderson S, Jones L . Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme. Nat Med. 2024; 30(1):279-289. PMC: 10803271. DOI: 10.1038/s41591-023-02682-0. View

4.
Gillis S, Roth A . PyClone-VI: scalable inference of clonal population structures using whole genome data. BMC Bioinformatics. 2020; 21(1):571. PMC: 7730797. DOI: 10.1186/s12859-020-03919-2. View

5.
Ding J, Sidore C, Butler T, Wing M, Qian Y, Meirelles O . Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools. PLoS Genet. 2015; 11(7):e1005306. PMC: 4501845. DOI: 10.1371/journal.pgen.1005306. View