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feat: preparation for somatic cnv #590
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…of Rscript, for more verbose logs
…to normal sample mapping
… BAQ, changed skip on flags), protect against None model values, changed regions option name
ericblanc20
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587 preparation for somatic cnv
feat: preparation for somatic cnv
Jan 10, 2025
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Adds several (fairly simple & simple-minded) steps required for proper CNV calling:
guess_sex
: simple inference of sex for autosome & sex chromosome coveragegermline_snvs
: simple identification of well-supported germline SNPs. Thevariant_calling
step unfortunately cannot be used for this task, as it is designed for trios.somatic_variants_for_cnv
: creates input for cnv tools using B-allele fractions to improve/verify CNV calls based on coverage alone. Thesomatic_variant_calling
step cannot be used, as the somatic variants frommutect2
differ greatly when germline variants are included or not.The current code is OK, but can certainly be improved:
germline_snvs/__init__.py
snappy_wrapper
is probably possible. Also, the derivedBcftoolsWrapper
is a first attempt at streamlining UNIX-like tools (such asbcftools
,bedtools
,bedops
,samtools
,rnaqc
, ...). Its design should be critically reviewed, before similar wrappers are built.ignored_chroms
should also be seen as a first attempt to be critically reviewed. The code ingenome_windows
is exercised in theignored_chroms
wrapper, called from thegermline_snvs
&somatic_variants_for_cnv
snakefiles.