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Added documentation for #320.
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lima1 committed Sep 23, 2023
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9 changes: 7 additions & 2 deletions vignettes/Quick.Rmd
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Expand Up @@ -207,7 +207,10 @@ Important recommendations:
to presence in germline databases. _Mutect 1.1.7_ automatically calls SNPs,
but _Mutect 2_ does not. Make sure to run _Mutect 2_ with
`--genotype-germline-sites true --genotype-pon-sites true`. You will not get
usuable output without those flags.
usuable output without those flags. Since _Mutect 2_ from _GATK 4.2.0+_,
average base quality scores can be very low and variants will be too
aggressively removed by _PureCN_. You will need to set `--min-base-quality
20` in _PureCN.R_ to keep them.

- Run the variant caller with a 50-75 base pair interval padding to increase
the number of heterozygous SNPs (for example `--interval_padding` and
Expand Down Expand Up @@ -524,7 +527,9 @@ Important recommendations:
with 50-100bp interval padding or no interval file at all. Also check
that the interval file was generated using the baits coordinates, not the
targets (the baits BED file should have a more even size distribution,
e.g. 120bp and multiples of it).
e.g. 120bp and multiples of it). If many variants are removed by the
default 25 base quality feature, you might be using _Mutect 2_ and need
to re-run _PureCN.R_ with `--min-base-quality 20`.

- "Initial testing for significant sample cross-contamination" in the log
file should not have many false positives, i.e. should be "unlikely" for
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