AlphaMissenseR

This is the development version of AlphaMissenseR; for the stable release version, see AlphaMissenseR.

Accessing AlphaMissense Data Resources in R

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DOI: 10.18129/B9.bioc.AlphaMissenseR

Bioconductor version: Development (3.23)

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, enter citation("AlphaMissenseR")):

Installation

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


if (!require("BiocManager", quietly = TRUE))
 install.packages("BiocManager")
# The following initializes usage of Bioc devel
BiocManager::install(version='devel')
BiocManager::install("AlphaMissenseR")

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