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nf-core/pangenome: Citations

nf-core

Ewels PA, Peltzer A, Fillinger S, Patel H, Alneberg J, Wilm A, Garcia MU, Di Tommaso P, Nahnsen S. The nf-core framework for community-curated bioinformatics pipelines. Nat Biotechnol. 2020 Mar;38(3):276-278. doi: https://10.1038/s41587-020-0439-x. PubMed PMID: 32055031.

Nextflow

Di Tommaso P, Chatzou M, Floden EW, Barja PP, Palumbo E, Notredame C. Nextflow enables reproducible computational workflows. Nat Biotechnol. 2017 Apr 11;35(4):316-319. doi: https://10.1038/nbt.3820. PubMed PMID: 28398311.

Pipeline tools

  • GFAFFIX

    Liao W, Asri M, Ebler J, Doerr D, Haukness M, Hickey G, Lu S, Lucas J K, Monlong J, Abel H J, Buonaiuto S, Chang X H, Cheng H, Chu J, Colonna V, Eizenga J M, Feng X, Fischer C, Fulton R S, Garg S, Groza C, Guarracino A, Harvey W T, Heumos S, Howe K, Jain M, Lu T, Markello C, Martin F J, Mitchell M W, Munson K M, Mwaniki M N, Novak A M, Olsen H E, Pesout T, Porubsky D, Prins P, Sibbesen J A, Tomlinson C, Villani F, Vollger M R, Human Pangenome Reference Consortium, Bourque G, Chaisson M J P, Flicek P, Phillippy A M, Zook J M, Eichler E E,Haussler D, Jarvis E D, Miga K H, Wang T, Garrison E, Marschall T, Hall I, Li H, Paten B. A Draft Human Pangenome Reference. Nature 617, 312–324 (2023). https://doi.org/10.1038/s41586-023-05896-x.

  • MultiQC

    Ewels P, Magnusson M, Lundin S, Käller M. MultiQC: summarize analysis results for multiple tools and samples in a single report. Bioinformatics. 2016 Oct 1;32(19):3047-8. doi: https://10.1093/bioinformatics/btw354. Epub 2016 Jun 16. PubMed PMID: 27312411; PubMed Central PMCID: PMC5039924.

  • NET2COMMUNITIES

    Traag, VA, Waltman, L & van Eck, NJ. From Louvain to Leiden: guaranteeing well-connected communities. Sci Rep 9, 5233 (2019). https://doi.org/10.1038/s41598-019-41695-z.

  • ODGI

    Guarracino A, Heumos S, Nahnsen S, Prins P, Garrison E. ODGI: understanding pangenome graphs. Bioinformatics. Volume 38. Issue 13. July 2022. Pages 3319–3326. https://doi.org/10.1093/bioinformatics/btac308.

    Heumos S, Guarracino A, Schmelzle J N M, Li J, Zhang Z, Nahnsen S, Prins P, Garrison E. Pangenome graph layout by Path-Guided Stochastic Gradient Descent. bioRxiv. https://www.biorxiv.org/content/10.1101/2023.09.22.558964v1.

  • PGGB

    Garrison E, Guarracino A, Heumos S, Villani F, Bao Z, Tattini L, Hagmann J, Vorbrugg S, Marco-Sola S, Kubica S, Ashbrook D G, Thorell K, Rusholme-Pilcher R L, Liti G, Rudbeck E, Nahnsen S, Yang Z, Moses M N, Nobrega F L, Wu Y, Chen H, de Ligt J, Sudmant P H, Soranzo N, Colonna V, Williams R W, Prins P. Building pangenome graphs. bioRxiv. 2023.04.05.535718. doi: https://doi.org/10.1101/2023.04.05.535718.

    Guarracino A, Buonaiuto S, de Lima L G, Potapova T, Rhie A, Koren S, Rubinstein B, Fischer C, Human Pangenome Reference Consortium, Gerton J L, Phillippy A M, Colonna V, Garrison E. Recombination between heterologous human acrocentric chromosomes. Nature 617, 335–343 (2023). https://doi.org/10.1038/s41586-023-05976-y.

    Liao W, Asri M, Ebler J, Doerr D, Haukness M, Hickey G, Lu S, Lucas J K, Monlong J, Abel H J, Buonaiuto S, Chang X H, Cheng H, Chu J, Colonna V, Eizenga J M, Feng X, Fischer C, Fulton R S, Garg S, Groza C, Guarracino A, Harvey W T, Heumos S, Howe K, Jain M, Lu T, Markello C, Martin F J, Mitchell M W, Munson K M, Mwaniki M N, Novak A M, Olsen H E, Pesout T, Porubsky D, Prins P, Sibbesen J A, Tomlinson C, Villani F, Vollger M R, Human Pangenome Reference Consortium, Bourque G, Chaisson M J P, Flicek P, Phillippy A M, Zook J M, Eichler E E,Haussler D, Jarvis E D, Miga K H, Wang T, Garrison E, Marschall T, Hall I, Li H, Paten B. A Draft Human Pangenome Reference. Nature 617, 312–324 (2023). https://doi.org/10.1038/s41586-023-05896-x.

  • SAMTOOLS

    Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R; 1000 Genome Project Data Processing Subgroup. The Sequence Alignment/Map format and SAMtools. Bioinformatics. 2009 Aug 15;25(16):2078-9. doi: https://10.1093/bioinformatics/btp352. Epub 2009 Jun 8. PMID: 19505943; PMCID: PMC2723002.

  • SEQWISH

    Garrison E, Guarracino A. Unbiased pangenome graphs. Bioinformatics. 2023 Jan 1;39(1):btac743. doi: https://10.1093/bioinformatics/btac743. PMID: 36448683; PMCID: PMC9805579.

  • SMOOTHXG

    Garrison E, Guarracino A, Heumos S, Villani F, Bao Z, Tattini L, Hagmann J, Vorbrugg S, Marco-Sola S, Kubica S, Ashbrook D G, Thorell K, Rusholme-Pilcher R L, Liti G, Rudbeck E, Nahnsen S, Yang Z, Moses M N, Nobrega F L, Wu Y, Chen H, de Ligt J, Sudmant P H, Soranzo N, Colonna V, Williams R W, Prins P. Building pangenome graphs. bioRxiv. 2023.04.05.535718. doi: https://doi.org/10.1101/2023.04.05.535718.

  • VCFLIB

    Garrison E, Kronenberg ZN, Dawson ET, Pedersen BS, Prins P (2022) A spectrum of free software tools for processing the VCF variant call format: vcflib, bio-vcf, cyvcf2, hts-nim and slivar. PLOS Computational Biology 18(5): e1009123. https://doi.org/10.1371/journal.pcbi.1009123.

  • VG

    Garrison E et al. Variation graph toolkit improves read mapping by representing genetic variation in the reference. Nature biotechnology vol. 36,9 (2018): 875-879. doi: https://10.1038/nbt.4227.

  • WFMASH

    Guarracino A, Mwaniki N, Marco-Sola S, Garrison E. Wfmash: whole-chromosome pairwise alignment using the hierarchical wavefront algorithm. 2024. https://github.com/waveygang/wfmash.

Software packaging/containerisation tools

  • Anaconda

    Anaconda Software Distribution. Computer software. Vers. 2-2.4.0. Anaconda, Nov. 2016. Web.

  • Bioconda

    Grüning B, Dale R, Sjödin A, Chapman BA, Rowe J, Tomkins-Tinch CH, Valieris R, Köster J; Bioconda Team. Bioconda: sustainable and comprehensive software distribution for the life sciences. Nat Methods. 2018 Jul;15(7):475-476. doi: https://10.1038/s41592-018-0046-7. PubMed PMID: 29967506.

  • BioContainers

    da Veiga Leprevost F, Grüning B, Aflitos SA, Röst HL, Uszkoreit J, Barsnes H, Vaudel M, Moreno P, Gatto L, Weber J, Bai M, Jimenez RC, Sachsenberg T, Pfeuffer J, Alvarez RV, Griss J, Nesvizhskii AI, Perez-Riverol Y. BioContainers: an open-source and community-driven framework for software standardization. Bioinformatics. 2017 Aug 15;33(16):2580-2582. doi: https://10.1093/bioinformatics/btx192. PubMed PMID: 28379341; PubMed Central PMCID: PMC5870671.

  • Docker

    Merkel, D. (2014). Docker: lightweight linux containers for consistent development and deployment. Linux Journal, 2014(239), 2. doi: https://10.5555/2600239.2600241.

  • Singularity

    Kurtzer GM, Sochat V, Bauer MW. Singularity: Scientific containers for mobility of compute. PLoS One. 2017 May 11;12(5):e0177459. doi: https://10.1371/journal.pone.0177459. eCollection 2017. PubMed PMID: 28494014; PubMed Central PMCID: PMC5426675.