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deprecated refilter and updated verison number
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jwala committed May 15, 2023
1 parent 6630e9f commit cee0b61
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10 changes: 3 additions & 7 deletions README.md
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Expand Up @@ -12,7 +12,7 @@ Table of contents
* [Installation](#gh-md-toc)
* [Description](#description)
* [Output file description](#output-file-description)
* [Filtering and refiltering](#filtering-and-refiltering)
* [Filtering](#filtering-and-refiltering)
* [Recipes and examples](#recipes-and-examples)
* [Whole genome somatic SV and indel detection](#whole-genome-somatic-sv-and-indel-detection)
* [Whole genome germline SV and indel detection](#whole-genome-germline-sv-and-indel-detection)
Expand Down Expand Up @@ -75,8 +75,7 @@ Output file description
-----------------------

##### ``*.bps.txt.gz``
Raw, unfiltered variants. This file is parsed at the end to produce the VCF files. With the bps.txt.gz,
one can define a new set of filteirng criteria (depending on sensitivity/specificity needs) using ``svaba refilter``.
Raw, unfiltered variants. This file is parsed at the end to produce the VCF files.

##### ``*.contigs.bam``
All assembly contigs as aligned to the reference with BWA-MEM. Note that this is an unsorted file. To view in IGV,
Expand Down Expand Up @@ -105,7 +104,7 @@ the cutoff for rearrangement vs indel is taken from BWA-MEM, whether it produces
or two separate alignments. This is an arbitrary cutoff, just as there is no clear consensus distinction between what
constitutes an "indel" and a "structural variant". The unfiltered VCF files include non-PASS variants.

Filtering and Refiltering
Filtering
-----------------------

SvABA performs a series of log-likelihood calculations for each variant. The purpose is to first classify a variant as real vs artifact,
Expand All @@ -114,9 +113,6 @@ and then to determine if the variant is somatic or germline. These log-likelihoo
* ``LR`` - Log of the odds that the variant has allelic fraction (AF) of 0 or >=0.5. This is used for somatic vs germline classification
* ``SL`` - Scaled LOD. LOD scores is heuristically scaled as: (min(Mapping quality #1, Mapping quality #2) - 2 * NM) / 60 * LOD

SvABA can refilter the bps.txt.gz file to produce new VCFs with different stringency cutoffs. To run, the following are required:
* ``-b`` - a BAM from the original run, which is used just for its header
* ``-i`` - input bps.txt.gz file

Examples and recipes
--------------------
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2 changes: 1 addition & 1 deletion src/svaba/run_svaba.h
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Expand Up @@ -24,7 +24,7 @@

#include "workqueue.h"

#define SVABA_VERSION "1.1.3"
#define SVABA_VERSION "1.2.0"

// typedefs
typedef std::map<std::string, std::string> BamMap;
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8 changes: 3 additions & 5 deletions src/svaba/svaba.cpp
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Expand Up @@ -24,7 +24,6 @@ static const char *SVABA_USAGE_MESSAGE =
"Usage: svaba <command> [options]\n\n"
"Commands:\n"
" run Run SvABA SV and Indel detection on BAM(s)\n"
" refilter Refilter the SvABA breakpoints with additional/different criteria to created filtered VCF and breakpoints file.\n"
"\nReport bugs to [email protected] \n\n";

int main(int argc, char** argv) {
Expand All @@ -39,10 +38,9 @@ int main(int argc, char** argv) {
return 0;
} else if (command == "run") {
runsvaba(argc -1, argv + 1);
} else if (command == "refilter") {
runRefilterBreakpoints(argc-1, argv+1);
}
else {
/* } else if (command == "refilter") {
runRefilterBreakpoints(argc-1, argv+1); */
} else {
std::cerr << SVABA_USAGE_MESSAGE;
return 0;
}
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