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Finer-grained control over analysis regions #503

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fellen31 opened this issue Nov 14, 2024 · 0 comments
Open

Finer-grained control over analysis regions #503

fellen31 opened this issue Nov 14, 2024 · 0 comments
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Effort M Effort Medium enhancement New feature or request Gain L Gain Large Urgency M Urgency Medium

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@fellen31
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Description of feature

Currently, there's one --bed input parameter that controls SNV-calling regions, mosdepth QC, methylation pileups and that filters SV-calls. But there are cases where someone would for example like to use --bed to remove variants on unplaced contigs, while still doing QC over all regions of the genome (using mosdepth's --by 1000 parameter and not --by bedfile.bed).

The filtering should be done as early as possible in most cases, but for CG in Stockholm we also need to be able to keep all variants to the end, before making a final filtering (clinical set of variants) that is output together with all the other (research set) variants.

Suggest we could have individual parameters for the different uses of a BED-file, that are default set to params.bed but can be overwritten, e.g.:

params.bed                        = null
params.qc_regions                 = params.bed ? params.bed : null
params.snv_calling_regions        = params.bed ? params.bed : null
params.methylation_pilups_regions = params.bed ? params.bed : null

etc.

@fellen31 fellen31 added the enhancement New feature or request label Nov 14, 2024
@fellen31 fellen31 added Gain L Gain Large Effort M Effort Medium Urgency M Urgency Medium labels Nov 25, 2024
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Labels
Effort M Effort Medium enhancement New feature or request Gain L Gain Large Urgency M Urgency Medium
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