View source: R/annotate_mut_effect.R
annotate_mut_effect | R Documentation |
The mutation effects donor loss (DL), donor gain (DG), acceptor loss (AL), and acceptor gain (AG) are annotated with respect to the provided transcripts to build resulting splice junctions. Donor loss (DG) and acceptor loss (AD) are only considered when overlapping with an exon-intron junction in the provided transcripts.
annotate_mut_effect(
effect_df,
transcripts,
transcripts_gr,
gene_mapping = FALSE,
consider_intron_retention = TRUE
)
effect_df |
a data.frame with variant effects on splicing per row. It should have at least the following columns:
|
transcripts |
a GRangesList with transcripts defined as GRanges of exons
created by |
transcripts_gr |
a GRanges object with transcript created by
|
gene_mapping |
Indicator whether only transcripts related to the gene
provided in the |
consider_intron_retention |
Indicator whether intron retention events should be considered as splicing event types when building the resulting splice junctions. |
A data.frame with with additional rows and columns including the
splice junction in the column junc_id
.
spliceai_file <- system.file("extdata", "spliceai_output.vcf", package = "splice2neo")
df_raw <- parse_spliceai(spliceai_file)
effect_df <- format_spliceai(df_raw)
annotate_mut_effect(effect_df, toy_transcripts, toy_transcripts_gr)
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