tallyVariants {VariantTools} | R Documentation

## Tally the positions in a BAM file

### Description

Tallies the bases, qualities and read positions for every genomic position in a BAM file. By default, this only returns the positions for which an alternate base has been detected. The typical usage is to pass a BAM file, the genome, the (fixed) `readlen` and (if the variant calling should consider quality) an appropriate `high_base_quality` cutoff.

Passing a `which` argument allows computing on only a subregion of the genome. `which` is a â€˜RangesListâ€™ or something coercible to one that limits the tally to that range or set of ranges. By default, the entire genome is processed.

For parallel evaluation (see `BPPARAM`): Specifically, `which` can be a â€˜GenomicRangesâ€™ or a â€˜GRangesListâ€™. If `which` is a â€˜GenomicRangesâ€™ and has length 1 it is tiled to create chunks for parallel evaluation. If it is longer than 1, each range becomes a chunk for parallel evaluation. If `which` is a â€˜GRangesListâ€™, each element (i.e. each â€˜GenomicRangesâ€™) becomes a chunk. The latter can be useful to ensure balanced worker load, e.g. in the case of regions covering multiple sequences(see `equisplit`).

### Usage

    ## S4 method for signature 'BamFile'
    tallyVariants(x, param = TallyVariantsParam(...), ...,
                                      BPPARAM = defaultBPPARAM())
    ## S4 method for signature 'BamFileList'
    tallyVariants(x, ...)
    ## S4 method for signature 'character'
    tallyVariants(x, ...)
    TallyVariantsParam(genome,
                       read_pos_breaks = NULL,
                       high_base_quality = 0L,
                       minimum_mapq = 13L,
                       variant_strand = 1L, ignore_query_Ns = TRUE,
                       ignore_duplicates = TRUE,
                       mask = GRanges(), keep_extra_stats = TRUE,
                       read_length = NA_integer_,
                       read_pos = !is.null(read_pos_breaks),
                       high_nm_score = NA_integer_,
                       ...)

### Arguments

`x` | An indexed BAM file, either a path, `BamFile` or `BamFileList` object. If the latter, the tallies are computed separately for each file, and the results are stacked with `stackSamples` into a single `VRanges`.
`param` | The parameters for the tallying process, as a `BamTallyParam`, typically constructed with `TallyVariantsParam`, see arguments below.
`...` | For `tallyVariants`, arguments to pass to `TallyVariantsParam`, listed below. For `TallyVariantsParam`, arguments to pass to `BamTallyParam`.
`genome` | The genome, either a `GmapGenome` or something coercible to one.
`read_pos_breaks` | The breaks used for tabulating the read positions (read positions) at each position. If this information is included (not `NULL`), `qaVariants` will use it during filtering.
`high_base_quality` | The minimum cutoff for whether a base is counted as high quality. By default, `callVariants` will use the high quality counts in the likelihood ratio test. Note that `bam_tally` will shift your quality scores by 33 no matter what type they are. If Illumina (pre 1.8) this will result in a range of 31-71. If Sanger/Illumina1.8 this will result in a range of 0-40/41. The default counts all bases as high quality. We typically use 56 for old Illumina, 23 for Sanger/Illumina1.8.
`minimum_mapq` | Minimum MAPQ of a read for it to be included in the tallies. This depend on the aligner; the default is reasonable for `gsnap`.
`variant_strand` | On how many strands must an alternate base be detected for a position to be returned. Highly recommended to set this to at least 1 (otherwise, the result is huge and includes many uninteresting reference rows).
`ignore_query_Ns` | Whether to ignore N calls in the reads. Usually, there is no reason to set this to `FALSE`. If it is `FALSE`, beware of low quality datasets returning enormous results.
`ignore_duplicates` | whether to ignore reads flagged as PCR/optical duplicates
`mask` | A `GRanges` specifyin a mask; all variants falling within the mask are discarded.
`read_length` | The expected read length, used for calculating the “median distance from nearest” end statistic. If not specified, an attempt is made to guess the read length from a random sample of the BAM file. If read length is found to be variable, statistics depending on the read length are not calculated.
`read_pos` | Whether to tally read positions, which can be computationally intensive.
`high_nm_score` | If not `NA`, counts of reads with NM (mismatch count) score equal to or greater are returned in the `count.high.nm` and `count.high.nm.ref` columns.
`keep_extra_stats` | Whether to keep various summary statistics generated from the tallies; setting this to FALSE will save memory. The extra statistics are most useful for algorithm diagnostics and development.
`BPPARAM` | A `BiocParallelParam` object specifying the resources and strategy for parallelizing the tally operation over the chromosomes.

### Value

For `tallyVariants`, the tally `GRanges`.

For `TallyVariantsParam`, an object with parameters suitable for variant calling.

### Note

The `VariantTallyParam` constructor is DEPRECATED.

### Author(s)

Michael Lawrence, Jeremiah Degenhardt

### Examples

    if (requireNamespace("gmapR")) {
        tally.param <- TallyVariantsParam(gmapR::TP53Genome(),
                                          high_base_quality = 23L,
                                          which = gmapR::TP53Which())
        bams <- LungCancerLines::LungCancerBamFiles()
        raw.variants <- tallyVariants(bams$H1993, tally.param)
    }

[Package VariantTools version 1.34.0 Index]