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README.md

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# bpbio: a single binary with a collection of sub-commands useful for genomics
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+ plot-sv-vcf: create a plot that shows the number of large and small variants separated by DEL/DUP/BND/INV for a multi-sample SV VCF. (idea from @ernfrid)
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+ variexpr: simple expression on variants for great good
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## Libraries
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+ homsv: look for depth changes in self-chains or homologous regions
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+ homsv-merge: merge output from homsv
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## Variexpr
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variexpr finds all trios in a VCF, PED pair and let's the user specify an expression with indentifiers
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of `kid`, `mom`, `dad` that is applied to each possible trio. samples that pass that filter have the id
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of the kid added to the INFO field.
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```
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bpbio variexpr \
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--pass-only \ # output only variants that pass one of the filters.
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--vcf $vcf \
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--ped $ped \
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--load functions.js \
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--out-vcf annotated.bcf \
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--info "variant.call_rate > 0.9" \ # this filter is applied before the trio filters and can speed evaluation if it is stringent.
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--trio "denovo:kid.alts == 1 && mom.alts == 0 && dad.alts == 0 \
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&& kid.AB > 0.25 && kid.AB < 0.75 \
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&& (mom.AD[1] + dad.AD[1]) == 0 \
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&& kid.GQ >= 20 && mom.GQ >= 20 && dad.GQ >= 20 \
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&& kid.DP >= 12 && mom.DP >= 12 && dad.DP >= 12" \
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--trio "informative:kid.GQ > 20 && dad.GQ > 20 && mom.GQ > 20 && kid.alts == 1 && ((mom.alts == 1 && dad.alts == 0) || (mom.alts == 0 && dad.alts == 1))" \
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--trio "recessive:recessive_func(kid, mom, dad)"
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Note that `variexpr` does not give direct access to the genotypes, instead exposing `alts` where 0 is homozygous reference, 1 is heterozygous, 2 is
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homozygous alternate and -1 when the genotype is unknown. It is recommended to **decompose** a VCF before sending to `variexpr`
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### Attributes
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+ anything in the INFO is available as e.g. INFO.CSQ
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+ if FORMAT.AB is not present, it is added so one can filter with kid.AB > 0.25 && kid.AB < 0.25
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+ variant attributes are: `CHROM`, `POS`, `start`, `end`, `ID`, `REF`, `ALT`, `QUAL`, `FILTER`
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+ calculated variant attributes include: `aaf`, `hwe_score`, `call_rate`, `num_hom_ref`, `num_het`, `num_hom_alt`, `num_unknown`
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+ sample attributes (via `kid`, `mom`, `dad`) include in the FORMAT. available as e.g. kid.AD[1]
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+ sample attributes from the ped for `affected`, `sex` are available as, e.g. kid.sex.

src/bpbio.nim

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from bpbiopkg/info import version
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#import bpbiopkg/fastcov
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#import bpbiopkg/homsv
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import bpbiopkg/variexpr
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#import bpbiopkg/variexpr
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#export fastcov
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import strformat
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import tables
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var dispatcher = {
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"plot-sv-vcf": pair(f:plotsvvcf.main, description:"make a plot of SV types across samples for a multi-sample SV VCF"),
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"variexpr": pair(f:variexpr.main, description:"simple expression to filter or annotate VCFs"),
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#"variexpr": pair(f:variexpr.main, description:"simple expression to filter or annotate VCFs"),
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#"homsv": pair(f:homsv.main, description:"look for depth changes in self-chains or homologous regions"),
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#"homsv-merge": pair(f:homsv.merge, description:"merge output from homsv"),
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}.toTable

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