# HG changeset patch # User wolma # Date 1418509191 18000 # Node ID 80dae6d040a97676ed8e2d40e7c02be1b33c659c Imported from capsule None diff -r 000000000000 -r 80dae6d040a9 snp_caller_caller.xml --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/snp_caller_caller.xml Sat Dec 13 17:19:51 2014 -0500 @@ -0,0 +1,65 @@ + + From a reference and aligned reads generate a BCF file with position-specific variant likelihoods and coverage information + + mimodd + + mimodd version -q + + mimodd varcall + + $ref_genome + #for $l in $list_input + ${l.inputfile} + #end for + --ofile $output_vcf + --depth $depth + $group_by_id + $no_md5_check + --verbose + --quiet + + + + + + + + + + + + + + + + + +.. class:: infomark + + **What it does** + +The tool transforms the read-centered information of its aligned reads input files into position-centered information. + +**It produces a BCF file that serves as the basis for all further variant analyses with MiModD**. + +**Notes:** + +By default, the tool will check whether the input BAM file(s) provide(s) MD5 checksums for the reference genome sequences used during read alignment (the *SNAP Read Alignment* tool stores these in the BAM file header). If it finds MD5 sums for all sequences, it will compare them to the actual checksums of the sequences in the specified reference genome and +check that every sequence mentioned in any BAM input file has a counterpart with matching MD5 sum in the reference genome and abort with an error message if that is not the case. If it finds sequences with matching checksum, but different names in the reference genome, it will use the name from the reference genome file in its output. + +This behavior has two benefits: + +1) It protects from accidental variant calling against a wrong reference genome (i.e., a different one than that used during the alignment step), which would result in wrong calls. This is the primary reason why we recommend to leave the check activated + +2) It provides an opportunity to change sequence names between aligned reads files and variant call files by providing a reference genome file with altered sequence names (but identical sequence data). + +Since there may be rare cases where you *really* want to align against a reference genome with different checksums (e.g., you may have edited the reference sequence based on the alignment results), the check can be turned off, but only do this if you know exactly why. + +----------- + +Internally, the tool uses samtools mpileup combined with bcftools to do all per-nucleotide calculations. + +It exposes just a single configuration parameter of these tools - the *maximum per-BAM depth*. Through this parameter, the maximum number of reads considered for variant calling at any site can be controlled. Its default value of 250 is taken from *samtools mpileup* and usually suitable. Consider, however, that this gives the maximum read number per input file, so if you have a large number of samples in one input file, it could become necessary to increase the value to get sufficient reads considered per sample. + + + diff -r 000000000000 -r 80dae6d040a9 tool_dependencies.xml --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/tool_dependencies.xml Sat Dec 13 17:19:51 2014 -0500 @@ -0,0 +1,6 @@ + + + + + +