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 99 100 101 102 103 104 105 106 107 108 109 110 111 112 113 114 115 116 117 118 119 120 121 122 123 124 125 126 127 128 129 130 131 132 133 134 135 136 137 138 139 140 141 142 143 144 145 146 147 148 149 150 151 152 153 154 155 156 157 158 159 160 161 162 163 164 165 166 167 168 169 170 171 172 173 174 175 176 177 178 179 180 181 182 183 184 185 186 187 188 189 190 191 192 193 194 195 196 197 198 199 200 201 202 203 204 205 206 207 208 209 210 211 212 213 214 215 216 217 218 219 220 221 222 223 224 225 226 227 228 229 230 231 232 233 234 235 236 237 238 239 240 241 242 243 244 245 246 247 248 249 250 251 252 253 254 255 256 257 258 259 260 261 262 263 264 265 266 267 268 269 270 271 272 273 274 275 276 277 278 279 280 281 282 283 284 285 286 287 288 289 290 291 292 293 294 295 296 297 298 299 300 301 302 303 304 305 306 307 308 309 310 311 312 313 314 315 316 317 318 319 320 321 322 323 324 325 326 327 328 329 330 331 332 333 334 335 336 337 338 339 340 341 342 343 344 345 346 347 348 349 350 351 352 353 354 355 356 357 358 359 360 361 362 363 364 365 366 367 368 369 370 371 372 373 374 375 376 377 378 379 380 381 382 383 384 385 386 387 388 389 390 391 392 393 394 395 396 397 398 399 400 401 402 403 404 405 406 407 408 409 410 411 412 413 414 415 416 417 418 419 420 421 422 423 424 425 426 427 428 429 430 431 432 433 434 435 436 437 438 439 440 441 442 443 444 445 446 447 448 449 450 451 452 453 454 455 456 457 458 459 460 461 462 463 464 465 466 467 468 469 470 471 472 473 474 475 476 477 478 479 480 481 482 483 484 485 486 487 488 489 490 491 492 493 494 495 496 497 498 499 500 501 502 503 504 505 506 507 508 509 510 511 512 513 514 515 516 517 518 519 520 521 522 523 524 525 526 527 528 529 530 531 532 533 534 535 536 537 538 539 540 541 542 543 544 545 546 547 548 549 550 551
|
/*
* Copyright (C) 2010-2012 Regents of the University of Michigan,
* Hyun Min Kang, Matthew Flickenger, Matthew Snyder,
* and Goncalo Abecasis
*
* This program is free software: you can redistribute it and/or modify
* it under the terms of the GNU General Public License as published by
* the Free Software Foundation, either version 3 of the License, or
* (at your option) any later version.
*
* This program is distributed in the hope that it will be useful,
* but WITHOUT ANY WARRANTY; without even the implied warranty of
* MERCHANTABILITY or FITNESS FOR A PARTICULAR PURPOSE. See the
* GNU General Public License for more details.
*
* You should have received a copy of the GNU General Public License
* along with this program. If not, see <http://www.gnu.org/licenses/>.
*/
#include "VcfFileReader.h"
VcfFileReader::VcfFileReader()
: VcfFile(),
myVcfIndex(NULL),
myNewSection(false),
mySectionChrom(""),
mySection1BasedStartPos(-1),
mySection1BasedEndPos(-1),
mySectionOverlap(false),
myRecordDiscardRules(),
mySampleSubset(),
myUseSubset(false),
myMinAltAlleleCount(UNSET_MIN_ALT_ALLELE_COUNT),
myAltAlleleCountSubset(NULL),
myMinMinorAlleleCount(UNSET_MIN_MINOR_ALLELE_COUNT),
myMinorAlleleCountSubset(NULL),
myDiscardRules(0),
myNumKeptRecords(0),
myTotalRead(0)
{
myFilePtr = NULL;
}
VcfFileReader::~VcfFileReader()
{
resetFile();
}
bool VcfFileReader::open(const char* filename, VcfHeader& header)
{
// Close an already open file.
close();
myStatus = StatGenStatus::SUCCESS;
if(VcfFile::open(filename, "r"))
{
// Successfully opened, so read the header.
if(!header.read(myFilePtr))
{
// Failed, so copy the status.
myStatus = header.getStatus();
return(false);
}
}
else
{
// Failed, status set by VcfFile::open.
return(false);
}
// Successfully opened and read the header.
return(true);
}
bool VcfFileReader::open(const char* filename, VcfHeader& header,
const char* includeFileName, const char* excludeSample,
const char* excludeFileName, const char* delims)
{
if(!open(filename, header))
{
// Failed to open & read header, so return.
return(false);
}
// Successfully opened and read the header, so setup the sample subset
// object based on the specified sample files and the header.
if(!mySampleSubset.init(header, includeFileName, excludeSample,
excludeFileName, delims))
{
// Failed to setup the subsetting.
std::cerr << "VcfFileReader - failed to setup sample subsetting\n";
}
myUseSubset = true;
// Successfully opened and read the header.
return(true);
}
// Read VCF Index file.
bool VcfFileReader::readVcfIndex(const char* vcfIndexFilename)
{
// Cleanup a previously setup index.
if(myVcfIndex != NULL)
{
delete myVcfIndex;
myVcfIndex = NULL;
}
// Create a new vcf index.
myVcfIndex = new Tabix();
StatGenStatus::Status indexStat = myVcfIndex->readIndex(vcfIndexFilename);
if(indexStat != StatGenStatus::SUCCESS)
{
std::string errorMessage = "Failed to read the vcf Index file: ";
errorMessage += vcfIndexFilename;
myStatus.setStatus(indexStat, errorMessage.c_str());
delete myVcfIndex;
myVcfIndex = NULL;
return(false);
}
if(myVcfIndex->getFormat() != Tabix::FORMAT_VCF)
{
std::string errorMessage = "ERROR: Tabix file not in VCF format: ";
errorMessage += vcfIndexFilename;
myStatus.setStatus(StatGenStatus::FAIL_PARSE, errorMessage.c_str());
delete myVcfIndex;
myVcfIndex = NULL;
return(false);
}
myStatus = StatGenStatus::SUCCESS;
return(true);
}
// Read VCF Index file.
bool VcfFileReader::readVcfIndex()
{
if(myFilePtr == NULL)
{
// Can't read the vcf index file because the VCF file has not yet been
// opened, so we don't know the base filename for the index file.
std::string errorMessage = "Failed to read the vcf Index file -"
" the VCF file needs to be read first in order to determine"
" the index filename.";
myStatus.setStatus(StatGenStatus::FAIL_ORDER, errorMessage.c_str());
return(false);
}
const char* vcfBaseName = myFilePtr->getFileName();
std::string indexName = vcfBaseName;
indexName += ".tbi";
bool foundFile = true;
std::string failMessage = "";
try
{
if(readVcfIndex(indexName.c_str()) == false)
{
foundFile = false;
}
}
catch (std::exception& e)
{
foundFile = false;
failMessage = e.what();
}
// Check to see if the index file was found.
if(!foundFile)
{
// Not found - try without the vcf extension.
// Locate the start of the vcf extension
size_t startExt = indexName.find(".vcf");
if(startExt == std::string::npos)
{
// Could not find the .vcf extension, so just return false since the
// call to readVcfIndex set the status.
return(false);
}
// Remove ".vcf" and try reading the index again.
indexName.erase(startExt, 4);
try
{
return(readVcfIndex(indexName.c_str()));
}
catch (std::exception& e)
{
failMessage += "\n";
failMessage += e.what();
throw(std::runtime_error(failMessage));
return(false);
}
}
return(true);
}
// return a pointer to the VCF Index file.
const Tabix* VcfFileReader::getVcfIndex()
{
return(myVcfIndex);
}
bool VcfFileReader::readRecord(VcfRecord& record, VcfSubsetSamples* subset)
{
myStatus = StatGenStatus::SUCCESS;
// Subset the read if there are subsets specified.
VcfSubsetSamples* subsetPtr = subset;
if((subsetPtr == NULL) && myUseSubset)
{
subsetPtr = &mySampleSubset;
}
// Check to see if a new region has been set. If so, setup for that region.
bool searchChrom = false;
if(myNewSection)
{
if(myVcfIndex != NULL)
{
// Have an index file so use
if(!processNewSection())
{
// processNewSection sets the status appropriately on failure.
return(false);
}
}
else if(myTotalRead == 0)
{
// ReadSection without an index only works if no records
// have been read.
searchChrom = true;
myNewSection = false;
}
else
{
myNewSection = false;
myStatus.setStatus(StatGenStatus::FAIL_ORDER,
"Cannot set read section with no index after reading records");
return(false);
}
}
// Keep looping until a desired record is found.
bool recordFound = false;
while(!recordFound)
{
if(!record.read(myFilePtr, mySiteOnly, myRecordDiscardRules, subsetPtr))
{
myStatus = record.getStatus();
myTotalRead += myRecordDiscardRules.getNumDiscarded();
myNumRecords += myRecordDiscardRules.getNumDiscarded();
myRecordDiscardRules.clearNumDiscarded();
return(false);
}
++myTotalRead;
myTotalRead += myRecordDiscardRules.getNumDiscarded();
// Check to see if the record is in the section.
// First check the chromosome.
if(!mySectionChrom.empty() && (mySectionChrom != record.getChromStr()))
{
if(searchChrom)
{
// Still searching for the chromosome, so continue
// to the next record.
continue;
}
// Record is not within the correct chromosome, so return failure.
myStatus = StatGenStatus::NO_MORE_RECS;
return(false);
}
searchChrom = false;
// Check if the record is after the section end if applicable.
if((mySection1BasedEndPos != -1) &&
(record.get1BasedPosition() >= mySection1BasedEndPos))
{
myStatus = StatGenStatus::NO_MORE_RECS;
return(false);
}
// Check if the record is prior to the section start if applicable.
// Determinine the VCF record end position.
// If we are not requiring overlap, then we only need to check
// the start position, but if overlap is required, then it needs
// to incrment the start by the length-1.
int numIncBases = 0;
if(mySectionOverlap)
{
// The VCF record end position is the start position + length of the
// reference string - 1.
numIncBases = record.getNumRefBases() - 1;
}
if((mySection1BasedStartPos != -1) &&
((record.get1BasedPosition() + numIncBases)
< mySection1BasedStartPos))
{
// This record is prior to the section, so keep reading.
continue;
}
++myNumRecords;
myNumRecords += myRecordDiscardRules.getNumDiscarded();
myRecordDiscardRules.clearNumDiscarded();
// Record successfully read, so check to see if it is discarded.
if((myDiscardRules & DISCARD_NON_PHASED) && !record.allPhased())
{
// Not all samples are phased, so discard this record.
continue;
}
if((myDiscardRules & DISCARD_MISSING_GT) &&
!record.hasAllGenotypeAlleles())
{
// discard missing GTs and this record had missing alleles,
// so keep reading.
continue;
}
if((myDiscardRules & DISCARD_FILTERED) &&
!(record.getFilter().passedAllFilters()))
{
// Record was filtered, so discard it.
continue;
}
if((myDiscardRules & DISCARD_MULTIPLE_ALTS) &&
(record.getNumAlts() > 1))
{
// Record had multiple alternates, so discard.
continue;
}
// Check allele counts for discarding.
if(myMinAltAlleleCount != UNSET_MIN_ALT_ALLELE_COUNT)
{
// Count the number of alternates.
int32_t altCount = 0;
for(int sampleNum = 0; sampleNum < record.getNumSamples();
sampleNum++)
{
if((myAltAlleleCountSubset != NULL) &&
!(myAltAlleleCountSubset->keep(sampleNum)))
{
// Skip this sample.
continue;
}
for(int gtNum = 0; gtNum < record.getNumGTs(sampleNum); gtNum++)
{
if(record.getGT(sampleNum, gtNum) > 0)
{
// Alternate, so increment the count.
++altCount;
}
}
}
if(altCount < myMinAltAlleleCount)
{
// Not enough alternates so continue to the next sample.
continue;
}
}
// Check to see if the minimum alternate allele count is met.
if(myMinMinorAlleleCount != UNSET_MIN_MINOR_ALLELE_COUNT)
{
// Get the number of possible alternates.
unsigned int numAlts = record.getNumAlts();
// Verify that each allele has the min count.
bool failMinorAlleleCount = false;
for(unsigned int i = 0; i <= numAlts; i++)
{
if(record.getAlleleCount(i, myMinorAlleleCountSubset)
< myMinMinorAlleleCount)
{
// Not enough of one gt, so not ok.
failMinorAlleleCount = true;
break;
}
}
if(failMinorAlleleCount)
{
// not enough alleles, so continue to the next record.
continue;
}
}
// Record was not discarded.
recordFound = true;
}
// Increment the number of kept records.
++myNumKeptRecords;
return(true);
}
bool VcfFileReader::setReadSection(const char* chromName)
{
return(set1BasedReadSection(chromName, -1, -1));
}
bool VcfFileReader::set1BasedReadSection(const char* chromName,
int32_t start, int32_t end,
bool overlap)
{
myNewSection = true;
mySectionChrom = chromName;
mySection1BasedStartPos = start;
mySection1BasedEndPos = end;
mySectionOverlap = overlap;
return(true);
}
// Returns whether or not the end of the file has been reached.
// return: int - true = EOF; false = not eof.
bool VcfFileReader::isEOF()
{
if (myFilePtr != NULL)
{
// File Pointer is set, so return if eof.
return(ifeof(myFilePtr));
}
// File pointer is not set, so return true, eof.
return true;
}
bool VcfFileReader::setExcludeIDs(const char* filename)
{
return(myRecordDiscardRules.setExcludeIDs(filename));
}
bool VcfFileReader::setIncludeIDs(const char* filename)
{
return(myRecordDiscardRules.setIncludeIDs(filename));
}
void VcfFileReader::addDiscardMinAltAlleleCount(int32_t minAltAlleleCount,
VcfSubsetSamples* subset)
{
myMinAltAlleleCount = minAltAlleleCount;
myAltAlleleCountSubset = subset;
}
void VcfFileReader::rmDiscardMinAltAlleleCount()
{
myMinAltAlleleCount = UNSET_MIN_ALT_ALLELE_COUNT;
myAltAlleleCountSubset = NULL;
}
void VcfFileReader::addDiscardMinMinorAlleleCount(int32_t minMinorAlleleCount,
VcfSubsetSamples* subset)
{
myMinMinorAlleleCount = minMinorAlleleCount;
myMinorAlleleCountSubset = subset;
}
void VcfFileReader::rmDiscardMinMinorAlleleCount()
{
myMinMinorAlleleCount = UNSET_MIN_ALT_ALLELE_COUNT;
myMinorAlleleCountSubset = NULL;
}
void VcfFileReader::resetFile()
{
myRecordDiscardRules.reset(),
mySampleSubset.reset();
myUseSubset = false;
myNumKeptRecords = 0;
myTotalRead = 0;
myNewSection = false;
mySectionChrom = "";
mySection1BasedStartPos = -1;
mySection1BasedEndPos = -1;
mySectionOverlap = false;
if(myVcfIndex != NULL)
{
delete myVcfIndex;
myVcfIndex = NULL;
}
}
bool VcfFileReader::processNewSection()
{
myNewSection = false;
// Check to see if the index file has been read.
if(myVcfIndex == NULL)
{
myStatus.setStatus(StatGenStatus::FAIL_ORDER,
"Cannot read section since there is no index file open");
throw(std::runtime_error("SOFTWARE BUG: trying to read a VCF record by section prior to opening the VCF Index file."));
return(false);
}
if(myFilePtr == NULL)
{
myStatus.setStatus(StatGenStatus::FAIL_ORDER,
"Cannot read section without first opening the VCF file.");
throw(std::runtime_error("SOFTWARE BUG: trying to read a VCF record by section prior to opening the VCF file."));
return(false);
}
// Using random access, so can't buffer
myFilePtr->disableBuffering();
uint64_t startPos = 0;
// Find where this section starts in the file.
if(!myVcfIndex->getStartPos(mySectionChrom.c_str(),
mySection1BasedStartPos,
startPos))
{
// Didn't find the position.
myStatus = StatGenStatus::NO_MORE_RECS;
return(false);
}
if(startPos != (uint64_t)iftell(myFilePtr))
{
// Seek to the start position.
if(ifseek(myFilePtr, startPos, SEEK_SET) != true)
{
// seek failed, return failure.
myStatus.setStatus(StatGenStatus::FAIL_IO,
"Failed to seek to the specified section");
return(false);
}
}
return(true);
}
|