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AlphaMissenseR

This is the released version of AlphaMissenseR; for the devel version, see AlphaMissenseR.

All versions 3.24 (devel), 3.23 (release), 3.22, 3.21, 3.20, 3.19

Accessing AlphaMissense Data Resources in R


Bioconductor version: Release (3.23)

The AlphaMissense publication <https://www.science.org/doi/epdf/10.1126/science.adg7492> outlines how a variant of AlphaFold / DeepMind was used to predict missense variant pathogenicity. Supporting data on Zenodo <https://zenodo.org/record/10813168> 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.

Author: Martin Morgan [aut, cre] ORCID iD ORCID: 0000-0002-5874-8148 , Tram Nguyen [aut] ORCID iD ORCID: 0000-0003-4809-6227 , Tyrone Lee [ctb], Nitesh Turaga [ctb], Chan Zuckerberg Initiative DAF CZF2019-002443 [fnd], NIH NCI ITCR U24CA180996 [fnd], NIH NCI IOTN U24CA232979 [fnd], NIH NCI ARTNet U24CA274159 [fnd]

Maintainer: Martin Morgan <mtmorgan.xyz at gmail.com>

Citation (from within R, enter citation("AlphaMissenseR")):

Martin Morgan, Tram Nguyen. AlphaMissenseR: Accessing AlphaMissense Data Resources in R. doi:10.18129/B9.bioc.AlphaMissenseR, R package version 1.8.1, https://bioconductor.org/packages/AlphaMissenseR.

Generated from the package metadata; it may differ from the package's own citation.

Installation

To install this package, start R (version "4.6") and enter:

if (!require("BiocManager", quietly = TRUE))
    install.packages("BiocManager")

BiocManager::install("AlphaMissenseR")

For older versions of R, please refer to the appropriate Bioconductor release.

Documentation

To view documentation for the version of this package installed in your system, start R and enter:

browseVignettes("AlphaMissenseR")
B. AlphaFold Integration HTML R Script
D. Benchmarking with ProteinGym HTML R Script
C. ClinVar Integration HTML R Script
A. Introduction HTML R Script
E. Issues & Solutions HTML R Script
Reference ManualPDF
NEWSText

Details

biocViews Annotation, FunctionalGenomics, GenePrediction, ImmunoOncology, SNP, Software, StructuralPrediction, Transcriptomics, VariantAnnotation
Version1.8.1
In Bioconductor sinceBioC 3.19 (R-4.4) (2.5 years)
License Artistic-2.0
Depends R (>= 4.3.0), dplyr
Imports rjsoncons (>= 1.0.1), DBI, duckdb (>= 1.3.1), rlang, curl, BiocFileCache, spdl, memoise, BiocBaseUtils, utils, stats, tools, methods, whisker, ggplot2
System Requirements
URLhttps://mtmorgan.github.io/AlphaMissenseR/
Bug Reportshttps://github.com/mtmorgan/AlphaMissenseR/issues
See More
Suggests BiocManager, BiocGenerics, S4Vectors, Seqinfo, GenomeInfoDb, GenomicRanges, AnnotationHub, ExperimentHub, ensembldb, httr, tidyr, r3dmol, bio3d, shiny, shiny.gosling, ggdist, colorspace, knitr, rmarkdown, withr, testthat (>= 3.0.0)
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Build Report Build Report, r-universe

Package Archives

Follow Installation instructions to use this package in your R session.

Source Package AlphaMissenseR_1.8.1.tar.gz
Windows Binary (x86_64) AlphaMissenseR_1.8.1.zip
macOS Binary (big-sur-x86_64) AlphaMissenseR_1.8.1.tgz
macOS Binary (sonoma-arm64) AlphaMissenseR_1.8.1.tgz
Source Repositorygit clone https://git.bioconductor.org/packages/AlphaMissenseR
Source Repository (Developer Access)git clone git@git.bioconductor.org:packages/AlphaMissenseR
Package Short Url https://bioconductor.org/packages/AlphaMissenseR/
Package Downloads ReportDownload Stats
Old Source Packages for BioC 3.23Source Archive