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PGScatalog/pgsc_calc: Citations

Lambert, Wingfield et al. (2024) The Polygenic Score Catalog: new functionality and tools to enable FAIR research. medRxiv. doi:10.1101/2024.05.29.24307783.

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: 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: 10.1038/nbt.3820. PubMed PMID: 28398311.

Pipeline tools

  • PGS Catalog API

    Lambert SA, Gil L, Jupp S, Ritchie SC, Xu Y, Buniello A, McMahon A, Abraham G, Chapman M, Parkinson H, Danesh J. The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation. Nature Genetics. 2021 Apr;53(4):420-5. doi: 10.1038/s41588-021-00783-5. PubMed PMID: 33692568.

  • pygscatalog

    Lambert, Wingfield et al. (2024) The Polygenic Score Catalog: new functionality and tools to enable FAIR research. medRxiv. doi:10.1101/2024.05.29.24307783.

  • PLINK 2

    Chang CC, Chow CC, Tellier LC, Vattikuti S, Purcell SM, Lee JJ. Second-generation PLINK: rising to the challenge of larger and richer datasets. Gigascience. 2015 Dec 1;4(1):s13742-015. doi: 10.1186/s13742-015-0047-8. PubMed PMID: 25722852. PubMed Central PMCID: PMC4342193.

  • FRAPOSA

    Zhang, D., et al. (2020) Fast and robust ancestry prediction using principal component analysis. Bioinformatics 36(11):3439–3446. https://doi.org/10.1093/bioinformatics/btaa152

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: 10.1038/s41592-018-0046-7. PubMed PMID: 29967506.

  • Docker

  • Singularity

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