Description of feature
We have implemented the following optional parameters in our fork and would like to propose them for upstream inclusion:
| Parameter |
Default |
Description |
filter_expansionhunter_htt |
false |
Filter HTT (Huntington) records from ExpansionHunter output |
filter_sv_to_manta |
false |
Exclude TIDDIT from SVDB_MERGE keeping only Manta SVs |
skip_vep_sv |
false |
Skip VEP annotation of SVs; SVDB_QUERY still runs |
sv_size_threshold |
null |
Filter SVs larger than this value in bp (e.g. 1000000); null = no size filter |
sv_freq_filter_expression |
null |
bcftools -e expression for SV frequency filtering (e.g. INFO/SWEFRQ >= 0.02) |
manta_call_regions |
null |
BED.gz file restricting Manta to specific regions; null = whole genome (including decoy) |
ml_prob_threshold |
null |
ML_PROB threshold for Sentieon DNAscope; null = use Sentieon's own MLrejected flag |
normalize_multiallelics |
false |
If true adds --multiallelics -both to bcftools norm; false avoids ~4% indel precision loss |
All parameters are optional with sensible defaults that preserve existing pipeline behaviour.
Description of feature
We have implemented the following optional parameters in our fork and would like to propose them for upstream inclusion:
filter_expansionhunter_httfalsefilter_sv_to_mantafalseskip_vep_svfalsesv_size_thresholdnullsv_freq_filter_expressionnull-eexpression for SV frequency filtering (e.g.INFO/SWEFRQ >= 0.02)manta_call_regionsnullml_prob_thresholdnullnormalize_multiallelicsfalse--multiallelics -bothto bcftools norm; false avoids ~4% indel precision lossAll parameters are optional with sensible defaults that preserve existing pipeline behaviour.