View source: R/calculate_expression_quantitative_trait_loci.R
calculate_expression_quantitative_trait_loci | R Documentation |
Calculate your own eQTLs
This service calculates the gene-variant association for any given pair of gene and variant, which may or may not be significant.
This requires as input a GENCODE ID, GTEx variant ID, and tissue site detail ID.
By default, the calculation is based on the latest GTEx release.
GTEx Portal API documentation.
calculate_expression_quantitative_trait_loci(
tissueSiteDetailId,
gencodeId,
variantId,
datasetId = "gtex_v8"
)
tissueSiteDetailId |
String. The ID of the tissue of interest. Can be a
GTEx specific ID (e.g. "Whole_Blood"; use |
gencodeId |
String. A Versioned GENCODE ID of a gene, e.g. "ENSG00000065613.9". |
variantId |
String. A gtex variant ID. |
datasetId |
String. Unique identifier of a dataset. Usually includes a data source and data release. Options: "gtex_v8", "gtex_snrnaseq_pilot". |
Notes on output:
Beta and standard error are recorded in columns nes
and error
respectively (see GTEx FAQs)
variantId
contains (in order) chromosome, position, reference allele, alternative allele and human genome build separated by underscores. The reference and alternative alleles for "chr1_13550_G_A_b38" for example are "G" and "A" respectively.
See examples for how to calculate minor and alternative allele frequencies.
Notes on input:
Argument variantId
also accepts RSIDs.
A tibble.
Other Dynamic Association Endpoints:
calculate_ieqtls()
,
calculate_isqtls()
,
calculate_splicing_quantitative_trait_loci()
## Not run:
# perform request - returns a tibble with a single row
calculate_expression_quantitative_trait_loci(tissueSiteDetailId = "Whole_Blood",
gencodeId = "ENSG00000203782.5",
variantId = "rs79641866")
# unnest list columns with tidyr::unnest()
calculate_expression_quantitative_trait_loci(tissueSiteDetailId = "Whole_Blood",
gencodeId = "ENSG00000203782.5",
variantId = "rs79641866") |>
tidyr::unnest(c("data", "genotypes"))
# to calculate minor and alternative allele frequencies
calculate_expression_quantitative_trait_loci(
tissueSiteDetailId = "Liver",
gencodeId = "ENSG00000237973.1",
variantId = "rs12119111"
) |>
dplyr::bind_rows(.id = "rsid") |>
tidyr::separate(
col = "variantId",
into = c(
"chromosome",
"position",
"reference_allele",
"alternative_allele",
"genome_build"
),
sep = "_"
) |>
# ...then ascertain alternative_allele frequency
dplyr::mutate(
alt_allele_count = (2 * homoAltCount) + hetCount,
total_allele_count = 2 * (homoAltCount + hetCount + homoRefCount),
alternative_allele_frequency = alt_allele_count / total_allele_count
) |>
dplyr::select(
rsid,
beta = nes,
se = error,
pValue,
minor_allele_frequency = maf,
alternative_allele_frequency,
chromosome:genome_build,
tissueSiteDetailId
)
## End(Not run)
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