# -------------------------------------------- # CITATION file created with {cffr} R package # See also: https://docs.ropensci.org/cffr/ # -------------------------------------------- cff-version: 1.2.0 message: 'To cite package "AlphaMissenseR" in publications use:' type: software license: Artistic-2.0 title: 'AlphaMissenseR: Accessing AlphaMissense Data Resources in R' version: 1.8.0 doi: 10.1093/bioadv/vbaf093 identifiers: - type: doi value: 10.32614/CRAN.package.AlphaMissenseR abstract: The AlphaMissense publication outlines how a variant of AlphaFold / DeepMind was used to predict missense variant pathogenicity. Supporting data on Zenodo include, for instance, 71M variants across hg19 and hg38 genome builds. The 'AlphaMissenseR' package allows ready access to the data, downloading individual files to DuckDB databases for exploration and integration into *R* and *Bioconductor* workflows. authors: - family-names: Morgan given-names: Martin email: mtmorgan.xyz@gmail.com orcid: https://orcid.org/0000-0002-5874-8148 - family-names: Nguyen given-names: Tram orcid: https://orcid.org/0000-0003-4809-6227 preferred-citation: type: article title: 'AlphaMissenseR: an integrated framework for investigating missense mutations in human protein-coding genes' authors: - family-names: Nguyen given-names: Tram N. - family-names: Lee given-names: Tyrone - family-names: Turaga given-names: Nitesh - family-names: Gentleman given-names: Robert - family-names: Geistlinger given-names: Ludwig - family-names: Morgan given-names: Martin email: mtmorgan.xyz@gmail.com orcid: https://orcid.org/0000-0002-5874-8148 year: '2025' journal: Bioinformatic Advances doi: 10.1093/bioadv/vbaf093 repository: https://bioc-release.r-universe.dev repository-code: https://github.com/mtmorgan/AlphaMissenseR commit: ffb9cce970492084612bfbd14b0055c42eee7b7f url: https://mtmorgan.github.io/AlphaMissenseR/ date-released: '2026-04-28' contact: - family-names: Morgan given-names: Martin email: mtmorgan.xyz@gmail.com orcid: https://orcid.org/0000-0002-5874-8148