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 99 100 101 102 103 104 105 106 107 108 109 110 111 112 113 114 115 116 117 118 119 120 121 122 123 124 125 126 127 128 129 130 131 132 133 134 135 136 137 138 139 140 141 142 143 144 145 146 147 148 149 150 151 152 153 154 155 156 157 158 159 160 161 162 163 164 165 166 167 168 169 170 171 172 173 174 175 176 177 178 179 180 181 182 183 184 185 186 187 188 189 190 191 192 193 194 195 196 197 198 199 200 201 202 203 204 205 206 207 208 209 210 211 212 213 214 215 216 217 218 219 220 221 222 223 224 225 226 227 228 229 230 231 232 233 234 235 236 237 238 239 240 241 242 243 244 245 246 247 248 249 250 251 252 253 254 255 256 257 258 259 260 261 262 263 264 265 266 267 268 269 270 271 272 273 274 275 276 277 278 279 280 281 282 283 284 285 286 287 288 289 290 291 292 293 294 295 296 297 298 299 300 301 302 303 304 305 306 307 308 309 310 311 312 313 314 315 316 317 318 319 320 321 322 323 324 325 326 327 328 329 330 331 332
|
#include "soap_snp.h"
#include <getopt.h>
using namespace std;
int usage() {
cerr<<"SoapSNP"<<endl;
cerr<<"Compulsory Parameters:"<<endl;
cerr<<"-i <FILE> Input SORTED Soap Result"<<endl;
cerr<<"-d <FILE> Reference Sequence in fasta format"<<endl;
cerr<<"-o <FILE> Output consensus file"<<endl;
cerr<<"Optional Parameters:(Default in [])"<<endl;
cerr<<"-z <Char> ASCII chracter standing for quality==0 [@]"<<endl;
cerr<<"-g <Double> Global Error Dependency Coefficient, 0.0(complete dependent)~1.0(complete independent)[0.9]"<<endl;
cerr<<"-p <Double> PCR Error Dependency Coefficient, 0.0(complete dependent)~1.0(complete independent)[0.5]"<<endl;
cerr<<"-r <Double> novel altHOM prior probability [0.0005]"<<endl;
cerr<<"-e <Double> novel HET prior probability [0.0010]"<<endl;
cerr<<"-t set transition/transversion ratio to 2:1 in prior probability"<<endl;
cerr<<"-s <FILE> Pre-formated dbSNP information"<<endl;
cerr<<"-2 specify this option will REFINE SNPs using dbSNPs information [Off]"<<endl;
cerr<<"-a <Double> Validated HET prior, if no allele frequency known [0.1]"<<endl;
cerr<<"-b <Double> Validated altHOM prior, if no allele frequency known[0.05]"<<endl;
cerr<<"-j <Double> Unvalidated HET prior, if no allele frequency known [0.02]"<<endl;
cerr<<"-k <Double> Unvalidated altHOM rate, if no allele frequency known[0.01]"<<endl;
cerr<<"-u Enable rank sum test to give HET further penalty for better accuracy. [Off]"<<endl;
//cerr<<"-n Enable binomial probability calculation to give HET for better accuracy. [Off]"<<endl;
cerr<<"-m Enable monoploid calling mode, this will ensure all consensus as HOM and you probably should SPECIFY higher altHOM rate. [Off]"<<endl;
cerr<<"-q Only output potential SNPs. Useful in Text output mode. [Off]"<<endl;
cerr<<"-M <FILE> Output the quality calibration matrix; the matrix can be reused with -I if you rerun the program"<<endl;
cerr<<"-I <FILE> Input previous quality calibration matrix. It cannot be used simutaneously with -M"<<endl;
cerr<<"-L <short> maximum length of read [45]"<<endl;
cerr<<"-Q <short> maximum FASTQ quality score [40]"<<endl;
cerr<<"-F <int> Output format. 0: Text; 1: GLFv2; 2: GPFv2.[0]"<<endl;
cerr<<"-E <String> Extra headers EXCEPT CHROMOSOME FIELD specified in GLFv2 output. Format is \"TypeName1:DataName1:TypeName2:DataName2\"[""]"<<endl;
cerr<<"-T <FILE> Only call consensus on regions specified in FILE. Format: ChrName\\tStart\\tEnd."<<endl;
//cerr<<"-S <FILE> Output summary of consensus"<<endl;
cerr<<"-h Display this help"<<endl;
exit(1);
return 0;
}
int readme() {
return usage();
}
int main ( int argc, char * argv[]) {
// This part is the default values of all parameters
Parameter * para = new Parameter;
std::string alignment_name, consensus_name("");
bool is_matrix_in = false; // Generate the matrix or just read it?
int c;
Files files;
while((c=getopt(argc,argv,"i:d:o:z:g:p:r:e:ts:2a:b:j:k:unmqM:I:L:Q:S:F:E:T:h")) != -1) {
switch(c) {
case 'i':
{
// Soap Alignment Result
files.soap_result.clear();
files.soap_result.open(optarg);
if( ! files.soap_result) {
cerr<<"No such file or directory:"<<optarg<<endl;
exit(1);
}
alignment_name = optarg;
break;
}
case 'd':
{
// The reference genome in fasta format
files.ref_seq.clear();
files.ref_seq.open(optarg);
if( ! files.ref_seq) {
cerr<<"No such file or directory:"<<optarg<<endl;
exit(1);
}
files.ref_seq.clear();
break;
}
case 'o':
{
consensus_name = optarg;
break;
}
case 'z':
{
// The char stands for quality==0 in fastq format
para->q_min = optarg[0];
if(para->q_min == 33) {
clog<<"Standard Fastq System Set"<<endl;
}
else if(para->q_min == 64) {
clog<<"Illumina Fastq System Set"<<endl;
}
else {
clog<<"Other types of Fastq files?? Are you sure?"<<endl;
}
para->q_max = para->q_min + 40;
break;
}
case 'g':
{
para->global_dependency= log10(atof(optarg));
break;
}
case 'p':
{
para->pcr_dependency= log10(atof(optarg));
break;
}
case 'r':
{
para->althom_novel_r = atof(optarg);
break;
}
case 'e':
{
para->het_novel_r=atof(optarg);
break;
}
case 't':
{
para->transition_dominant=true;
break;
}
case 's':
{
// Optional: A pre-formated dbSNP table
files.dbsnp.clear();
files.dbsnp.open(optarg);
if( ! files.ref_seq) {
cerr<<"No such file or directory:"<<optarg<<endl;
exit(1);
}
files.dbsnp.clear();
break;
}
case '2':
{
// Refine prior probability based on dbSNP information
para->refine_mode = true;
break;
}
case 'a':
{
para->althom_val_r=atof(optarg);
break;
}
case 'b':
{
para->het_val_r=atof(optarg);
break;
}
case 'j':
{
para->althom_unval_r=atof(optarg);
break;
}
case 'k':
{
para->het_unval_r=atof(optarg);
break;
}
case 'u':
{
para->rank_sum_mode = true;
break;
}
case 'n':
{
para->binom_mode = true;
break;
}
case 'm':
{
para->is_monoploid=1;
break;
}
case 'q':
{
para->is_snp_only=1;
break;
}
case 'M':
{
files.matrix_file.close(); files.matrix_file.clear();
// Output the calibration matrix
files.matrix_file.open(optarg, fstream::out);
if( ! files.matrix_file) {
cerr<<"Cannot creat file :"<<optarg<<endl;
exit(1);
}
files.matrix_file.clear();
break;
}
case 'I':
{
files.matrix_file.close(); files.matrix_file.clear();
// Input the calibration matrix
files.matrix_file.open(optarg, fstream::in);
if( ! files.matrix_file) {
cerr<<"No such file or directory:"<<optarg<<endl;
exit(1);
}
files.matrix_file.clear();
is_matrix_in = true;
break;
}
case 'S':
{
//files.summary.open(optarg);
//// Output the summary of consensus
//if( ! files.summary ) {
// cerr<<"No such file or directory: "<<optarg<<endl;
// exit(1);
//}
break;
}
case 'L':
{
para->read_length = atoi(optarg);
break;
}
case 'Q':
{
para->q_max = optarg[0];
if(para->q_max < para->q_min) {
cerr<< "FASTQ quality character error: Q_MAX > Q_MIN" <<endl;
}
break;
}
case 'F': {
para->glf_format = atoi(optarg);
break;
}
case 'E': {
para->glf_header = optarg;
break;
}
case 'T': {
files.region.clear();
files.region.open(optarg);
files.region.clear();
para->region_only = true;
break;
}
case 'h':readme();break;
case '?':usage();break;
default: cerr<<"Unknown error in command line parameters"<<endl;
}
}
if( consensus_name=="" || !files.ref_seq || !files.soap_result ) {
// These are compulsory parameters
usage();
}
if ( ! para->glf_format ) {
// Normal SOAPsnp tab-delimited text format
files.consensus.clear();
files.consensus.open(consensus_name.c_str());
if( ! files.consensus ) {
cerr<<"Cannot creat file:" <<consensus_name<<endl;
exit(1);
}
files.consensus.clear();
}
else {
// SOAPsnp-defined GLF and baseinfo format
files.consensus.clear();
files.consensus.open(consensus_name.c_str(), ios::binary);
if(!files.consensus) {
cerr<<"Cannot creat file:" <<consensus_name<<endl;
exit(1);
}
files.consensus.clear();
files.baseinfo.clear();
string baseinfo_name = consensus_name + ".baseinfo";
files.baseinfo.open(baseinfo_name.c_str());
if(!files.baseinfo) {
cerr<<"Cannot creat file:" <<baseinfo_name<<endl;
exit(1);
}
files.baseinfo.clear();
files.o_region.clear();
string o_region_name = consensus_name + ".index";
files.o_region.open(o_region_name.c_str());
if(!files.o_region) {
cerr<<"Cannot creat file:" <<o_region_name<<endl;
exit(1);
}
files.o_region.clear();
}
//Read the chromosomes into memory
Genome * genome = new Genome(files.ref_seq, files.dbsnp);
files.ref_seq.close();
files.dbsnp.close();
clog<<"Reading Chromosome and dbSNP information Done."<<endl;
if(para->region_only && files.region) {
genome->read_region(files.region, para);
clog<<"Read target region done."<<endl;
}
Prob_matrix * mat = new Prob_matrix;
if( ! is_matrix_in) {
//Read the soap result and give the calibration matrix
mat->matrix_gen(files.soap_result, para, genome);
if (files.matrix_file) {
mat->matrix_write(files.matrix_file, para);
}
}
else {
mat->matrix_read(files.matrix_file, para);
}
files.matrix_file.close();
clog<<"Correction Matrix Done!"<<endl;
mat->prior_gen(para);
mat->rank_table_gen();
Call_win info(para->read_length);
info.initialize(0);
//Call the consensus
files.soap_result.close();
files.soap_result.clear();
files.soap_result.open(alignment_name.c_str());
files.soap_result.clear();
info.soap2cns(files.soap_result, files.consensus, files.baseinfo, genome, mat, para);
files.soap_result.close();
files.consensus.close();
cerr<<"Consensus Done!"<<endl;
return 0;
}
|