1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 86 87 88 89 90 91 92 93 94 95 96 97 98 99 100 101 102 103 104 105 106 107 108 109 110 111 112 113 114 115 116 117 118 119 120 121 122 123 124 125 126 127 128 129 130 131 132 133 134 135 136 137 138 139 140 141 142 143 144 145 146 147 148 149 150 151 152 153 154 155 156 157 158 159 160 161 162 163 164 165 166 167 168 169 170 171 172 173 174 175 176 177 178 179 180 181 182 183 184 185 186 187 188 189 190 191 192 193 194 195 196 197 198 199 200 201 202 203 204 205 206 207 208 209 210 211 212 213 214 215 216 217 218 219 220 221 222 223 224 225 226 227 228 229 230 231 232 233 234 235 236 237 238 239 240 241 242 243 244 245 246 247 248 249 250 251 252 253
|
// ==========================================================================
// Mason - A Read Simulator
// ==========================================================================
// Copyright (c) 2006-2026, Knut Reinert, FU Berlin
// All rights reserved.
//
// Redistribution and use in source and binary forms, with or without
// modification, are permitted provided that the following conditions are met:
//
// * Redistributions of source code must retain the above copyright
// notice, this list of conditions and the following disclaimer.
// * Redistributions in binary form must reproduce the above copyright
// notice, this list of conditions and the following disclaimer in the
// documentation and/or other materials provided with the distribution.
// * Neither the name of Knut Reinert or the FU Berlin nor the names of
// its contributors may be used to endorse or promote products derived
// from this software without specific prior written permission.
//
// THIS SOFTWARE IS PROVIDED BY THE COPYRIGHT HOLDERS AND CONTRIBUTORS "AS IS"
// AND ANY EXPRESS OR IMPLIED WARRANTIES, INCLUDING, BUT NOT LIMITED TO, THE
// IMPLIED WARRANTIES OF MERCHANTABILITY AND FITNESS FOR A PARTICULAR PURPOSE
// ARE DISCLAIMED. IN NO EVENT SHALL KNUT REINERT OR THE FU BERLIN BE LIABLE
// FOR ANY DIRECT, INDIRECT, INCIDENTAL, SPECIAL, EXEMPLARY, OR CONSEQUENTIAL
// DAMAGES (INCLUDING, BUT NOT LIMITED TO, PROCUREMENT OF SUBSTITUTE GOODS OR
// SERVICES; LOSS OF USE, DATA, OR PROFITS; OR BUSINESS INTERRUPTION) HOWEVER
// CAUSED AND ON ANY THEORY OF LIABILITY, WHETHER IN CONTRACT, STRICT
// LIABILITY, OR TORT (INCLUDING NEGLIGENCE OR OTHERWISE) ARISING IN ANY WAY
// OUT OF THE USE OF THIS SOFTWARE, EVEN IF ADVISED OF THE POSSIBILITY OF SUCH
// DAMAGE.
//
// ==========================================================================
// Author: Manuel Holtgrewe <manuel.holtgrewe@fu-berlin.de>
// ==========================================================================
// Apply variants from a VCF file to a genomic sequence.
//
// The variants must be equivalent to the variants written by mason_variator.
// See the documentation of mason_materializer and mason_variator for details
// on this.
// ==========================================================================
// Note: We treat all given variants as phased.
#include <fstream>
#include <seqan/arg_parse.h>
#include <seqan/basic.h>
#include <seqan/seq_io.h>
#include <seqan/sequence.h>
#include <seqan/vcf_io.h>
#include "vcf_materialization.h"
#include "mason_options.h"
#include "mason_types.h"
// ==========================================================================
// Classes
// ==========================================================================
// --------------------------------------------------------------------------
// Class MasonMaterializerApp
// --------------------------------------------------------------------------
class MasonMaterializerApp
{
public:
// The configuration to use.
MasonMaterializerOptions const & options;
// The random number generation.
TRng rng, methRng;
// Materialization of VCF.
VcfMaterializer vcfMat;
// Output sequence stream.
seqan2::SeqFileOut outStream;
// Output breakpoints file.
std::fstream breakpointsOut;
// Input and output for methylation.
seqan2::FaiIndex methFaiIndex;
seqan2::SeqFileOut outMethLevelStream;
MasonMaterializerApp(MasonMaterializerOptions const & _options) :
options(_options), rng(options.seed), methRng(options.methSeed),
vcfMat(rng,
toCString(options.matOptions.fastaFileName),
toCString(options.matOptions.vcfFileName),
toCString(options.methFastaInFile),
&options.methOptions)
{}
int run()
{
// Intialization
std::cerr << "__INITIALIZATION_____________________________________________________________\n"
<< "\n";
std::cerr << "Opening files...";
try
{
vcfMat.init();
if (!open(outStream, toCString(options.outputFileName)))
throw MasonIOException("Could not open output file.");
// Open output breakpoints TSV file.
if (!empty(options.outputBreakpointFile))
{
breakpointsOut.open(toCString(options.outputBreakpointFile), std::ios::binary | std::ios::out);
if (!breakpointsOut.good())
throw MasonIOException("Could not open breakpoints output file.");
breakpointsOut << "#ref\tid\tpos\n";
}
if (options.methOptions.simulateMethylationLevels)
{
if (!open(outMethLevelStream, toCString(options.methFastaOutFile)))
throw MasonIOException("Could not open methylation output file.");
}
}
catch (MasonIOException & e)
{
std::cerr << "\nERROR: " << e.what() << "\n";
return 1;
}
std::cerr << " OK\n";
// Perform genome simulation.
std::cerr << "\n__MATERIALIZING______________________________________________________________\n"
<< "\n";
// The identifiers of the just materialized data.
int rID = 0, hID = 0;
seqan2::Dna5String seq;
std::cerr << "Materializing...";
MethylationLevels levels;
std::vector<SmallVarInfo> varInfos; // small variants for counting in read alignments
std::vector<std::pair<int, int> > breakpoints;
if (options.methOptions.simulateMethylationLevels) // methylation level simulation
while (vcfMat.materializeNext(seq, levels, varInfos, breakpoints, rID, hID))
{
std::stringstream ssName;
ssName << contigNames(context(vcfMat.vcfFileIn))[rID] << options.haplotypeNameSep << (hID + 1);
std::cerr << " " << ssName.str();
writeRecord(outStream, ssName.str(), seq);
if (!empty(options.outputBreakpointFile))
for (std::vector<std::pair<int, int> >::const_iterator it = breakpoints.begin(); it != breakpoints.end(); ++it)
breakpointsOut << ssName.str() << "\t" << vcfMat.contigVariants.getVariantName(it->second)
<< "\t" << (it->first + 1) << "\n";
std::stringstream ssTop;
ssTop << ssName.str() << "/TOP";
writeRecord(outMethLevelStream, ssTop.str(), levels.forward);
std::stringstream ssBottom;
ssBottom << ssName.str() << "/BOT";
writeRecord(outMethLevelStream, ssBottom.str(), levels.reverse);
}
else // NO methylation level simulation
while (vcfMat.materializeNext(seq, varInfos, breakpoints, rID, hID))
{
std::stringstream ssName;
ssName << contigNames(context(vcfMat.vcfFileIn))[rID] << options.haplotypeNameSep << (hID + 1);
std::cerr << " " << ssName.str();
writeRecord(outStream, ssName.str(), seq);
if (!empty(options.outputBreakpointFile))
for (std::vector<std::pair<int, int> >::const_iterator it = breakpoints.begin(); it != breakpoints.end(); ++it)
breakpointsOut << ssName.str() << "\t" << vcfMat.contigVariants.getVariantName(it->second)
<< "\t" << (it->first + 1) << "\n";
}
std::cerr << " DONE\n";
std::cerr << "\nDone materializing VCF file.\n";
return 0;
}
};
// ==========================================================================
// Functions
// ==========================================================================
// --------------------------------------------------------------------------
// Function parseCommandLine()
// --------------------------------------------------------------------------
seqan2::ArgumentParser::ParseResult
parseCommandLine(MasonMaterializerOptions & options, int argc, char const ** argv)
{
// Setup ArgumentParser.
seqan2::ArgumentParser parser("mason_materializer");
// Set short description, version, and date.
setShortDescription(parser, "VCF Materialization");
setDateAndVersion(parser);
setCategory(parser, "Simulators");
// Define usage line and long description.
addUsageLine(parser,
"[OPTIONS] \\fB-ir\\fP \\fIIN.fa\\fP \\fB-iv\\fP \\fIIN.vcf\\fP \\fB-o\\fP \\fIOUT.fa\\fP ");
addDescription(parser,
"Apply variants from \\fIIN.vcf\\fP to \\fIIN.fa\\fP and write the results to \\fIout.fa\\fP.");
// Add option and text sections.
options.addOptions(parser);
options.addTextSections(parser);
// Parse command line.
seqan2::ArgumentParser::ParseResult res = seqan2::parse(parser, argc, argv);
// Only extract options if the program will continue after parseCommandLine()
if (res != seqan2::ArgumentParser::PARSE_OK)
return res;
options.getOptionValues(parser);
return seqan2::ArgumentParser::PARSE_OK;
}
// --------------------------------------------------------------------------
// Function main()
// --------------------------------------------------------------------------
// Program entry point.
int main(int argc, char const ** argv)
{
// Parse the command line.
MasonMaterializerOptions options;
seqan2::ArgumentParser::ParseResult res = parseCommandLine(options, argc, argv);
// If there was an error parsing or built-in argument parser functionality
// was triggered then we exit the program. The return code is 1 if there
// were errors and 0 if there were none.
if (res != seqan2::ArgumentParser::PARSE_OK)
return res == seqan2::ArgumentParser::PARSE_ERROR;
std::cerr << "MASON VARIANT MATERIALIZER\n"
<< "==========================\n\n";
// Print the command line arguments back to the user.
if (options.verbosity > 0)
{
std::cerr << "__OPTIONS____________________________________________________________________\n"
<< "\n";
options.print(std::cerr);
}
MasonMaterializerApp app(options);
return app.run();
}
|