Investigating the Functional Characteristics of Selected Variants and Their Vicinity Genomic Region


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Documentation for package ‘SNPannotator’ version 1.4.0

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annotate_shiny Run the annotation pipeline on a list of variants from shiny app
demo_annotation Demo run of the annotation pipeline
EnsemblDatabases List population from human database (1000 Genomes project)
EnsemblReleases data release available on this REST server.
findGenomicPos Query GTEx portal for Variant's genomic position based on rsID Retrieves variant information from the GTEx portal using either an rsID or a variant ID formatted as 'CHR_POS_REF_ALT'. If an rsID is provided, the function returns the corresponding genomic positions in both GRCh37 and GRCh38 builds. When searching for an rsID based on genomic position, the position parameter should be specified according to the GRCh38 reference genome.
findPairwiseLD Computes and returns LD values between the given variants.
findProxy Finds variants in high LD
findRSID Query Ensembl for variant information based on genomic position
getConfigFile Copy a sample configuration file
mergeResultFiles Merge multiple output files
pingEnsembl Checks if the service is alive
run_annotation Run the annotation pipeline on a list of variants
run_stringdb_annotation Analyze STRING DB Interactions and perform functional enrichment