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AlphaMissenseR

This is thereleased version of AlphaMissenseR; for the devel version, seeAlphaMissenseR.

Accessing AlphaMissense Data Resources in R

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DOI: 10.18129/B9.bioc.AlphaMissenseR


Bioconductor version: Release (3.22)

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.

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, entercitation("AlphaMissenseR")):

Installation

To install this package, start R (version "4.5") and enter:

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

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

Documentation

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

browseVignettes("AlphaMissenseR")
A. IntroductionHTMLR Script
B. AlphaFold IntegrationHTMLR Script
C. ClinVar IntegrationHTMLR Script
D. Benchmarking with ProteinGymHTMLR Script
E. Issues & SolutionsHTMLR Script
Reference ManualPDF
NEWSText

Need some help? Ask on the Bioconductor Support site!

Details

biocViewsAnnotation,FunctionalGenomics,GenePrediction,ImmunoOncology,SNP,Software,StructuralPrediction,Transcriptomics,VariantAnnotation
Version1.6.1
In Bioconductor sinceBioC 3.19 (R-4.4) (1.5 years)
LicenseArtistic-2.0
DependsR (>= 4.3.0),dplyr
Importsrjsoncons (>= 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
SuggestsBiocManager,BiocGenerics,S4Vectors,Seqinfo,GenomeInfoDb,GenomicRanges,AnnotationHub,ExperimentHub,ensembldb,httr,tidyr,r3dmol,bio3d,shiny,shiny.gosling,ggdist,colorspace,knitr,rmarkdown,testthat (>= 3.0.0)
Linking To
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Depends On Me
Imports Me
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Build ReportBuild Report

Package Archives

FollowInstallation instructions to use this package in your R session.

Source PackageAlphaMissenseR_1.6.1.tar.gz
Windows Binary (x86_64) AlphaMissenseR_1.6.0.zip
macOS Binary (x86_64)AlphaMissenseR_1.6.1.tgz
macOS Binary (arm64)AlphaMissenseR_1.6.1.tgz
Source Repositorygit clone https://git.bioconductor.org/packages/AlphaMissenseR
Source Repository (Developer Access)git clone git@git.bioconductor.org:packages/AlphaMissenseR
Bioc Package Browserhttps://code.bioconductor.org/browse/AlphaMissenseR/
Package Short Urlhttps://bioconductor.org/packages/AlphaMissenseR/
Package Downloads ReportDownload Stats
Old Source Packages for BioC 3.22Source Archive

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