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update docs to loosely document the filtering scripts.
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@@ -390,6 +390,58 @@ Minimally, you must provide the program the reference fasta the bams were | |
cost of a decrease in specificity. | ||
\end_layout | ||
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\begin_layout Section* | ||
Basic filtering with provided Perl scripts | ||
\end_layout | ||
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\begin_layout Standard | ||
A small number of basic Perl scripts are included in the SomaticSniper package | ||
(located in src/scripts of the source code release) to aid in filtering | ||
out likely false positives. | ||
In order to get the recommended filtering you should do the following. | ||
Defaults are set assuming that BWA short is the aligner used. | ||
Other aligners have not been tested and recommendations are not available. | ||
Before proceeding you will need to obtain and compile bam-readcount (https://gi | ||
thub.com/genome/bam-readcount). | ||
You will also need to generate a samtools pileup (not mpileup) indel file. | ||
Handling of indel containing VCFs is not implemented. | ||
\end_layout | ||
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\begin_layout Enumerate | ||
Filter on standard filters using the indel file. | ||
This will also remove LOH calls e.g. | ||
perl snpfilter.pl --snp-file your_sniper_file --indel-file your_indel_pileup | ||
\end_layout | ||
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\begin_layout Enumerate | ||
Adapt the remainder for use with bam-readcount e.g. | ||
perl prepare_for_readcount.pl --snp-file your_sniper_file.SNPfilter | ||
\end_layout | ||
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\begin_layout Enumerate | ||
Run bam-readcount (I'd recommend using the same mapping quality -q setting | ||
as you ran SomaticSniper with) e.g. | ||
bam-readcount -b 15 -f your_ref.fasta -l your_sniper_file.SNPfilter.pos your_tumor. | ||
bam > your_readcounts.rc | ||
\end_layout | ||
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\begin_layout Enumerate | ||
Run the false positive filter e.g. | ||
perl fpfilter.pl --snp-file your_sniper_file.SNPfilter --readcount-file your_read | ||
counts.rc | ||
\end_layout | ||
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\begin_layout Enumerate | ||
Lastly, run the "high confidence" filter which filters based on the Somatic | ||
Score and mapping quality e.g. | ||
perl highconfidence.pl --snp-file your_sniper_file.SNPfilter.fp_pass | ||
\end_layout | ||
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\begin_layout Standard | ||
Your final set of high confidence and highly filtered indels is now in the | ||
file your_sniper_file.SNPfilter.fp_pass.hc | ||
\end_layout | ||
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\begin_layout Section* | ||
File Formats | ||
\end_layout | ||
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@@ -1145,7 +1197,9 @@ User Support | |
\end_layout | ||
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\begin_layout Standard | ||
Please mail [email protected] with problems or questions. | ||
Please first search Biostar (http://www.biostars.org) and then ask a question | ||
there if needed. | ||
We automatically monitor Biostar for questions related to our tools. | ||
\end_layout | ||
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\end_body | ||
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