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 99 100 101 102 103 104 105 106 107 108 109 110 111 112 113 114 115 116 117 118 119 120 121 122 123 124 125 126 127 128 129 130 131 132 133 134 135 136 137 138 139 140 141 142 143 144 145 146 147 148 149 150 151 152 153 154 155 156 157 158 159 160 161 162 163 164 165 166 167 168 169 170 171 172 173 174 175 176 177 178 179 180 181 182 183 184 185 186 187 188 189 190 191 192 193 194 195 196 197 198 199 200 201 202 203 204 205 206 207 208 209 210 211 212 213 214 215 216 217 218 219 220 221 222 223 224 225 226 227 228 229 230 231 232 233 234 235 236 237 238 239 240 241 242 243 244 245 246 247 248 249 250 251 252 253 254 255 256 257 258 259 260 261 262 263 264 265 266 267 268 269 270 271 272 273 274 275 276 277 278 279 280 281 282 283 284 285 286 287 288 289 290 291 292 293 294 295 296 297 298 299 300 301 302 303 304 305 306 307 308 309 310 311 312 313 314 315 316 317 318 319 320 321 322 323 324 325 326 327 328 329 330 331 332 333 334 335 336 337 338 339 340 341 342 343 344 345 346 347 348 349 350 351 352 353 354 355 356 357 358 359 360 361 362 363 364 365 366 367 368 369 370 371 372 373 374 375 376 377 378 379 380 381 382 383 384 385 386 387 388 389 390 391 392 393 394 395 396 397 398 399 400 401 402 403 404 405 406 407 408 409 410 411 412 413 414 415 416 417 418 419 420 421 422 423 424 425 426 427 428 429 430 431 432 433 434 435 436 437 438 439 440 441 442 443 444 445 446 447 448 449 450 451 452 453 454 455 456 457 458 459 460 461 462 463 464 465 466 467 468 469 470 471 472 473 474 475 476 477 478 479 480 481 482 483 484 485 486 487 488 489 490 491 492 493 494 495 496 497 498 499 500 501 502 503 504 505 506 507 508 509 510 511 512 513 514 515 516 517 518 519 520 521 522 523 524 525 526 527 528 529 530 531 532 533 534 535 536 537 538 539 540 541 542 543 544 545 546 547 548 549 550 551 552 553 554 555 556 557 558 559 560 561 562 563 564 565 566 567 568 569 570 571 572 573 574 575 576 577 578 579 580 581 582 583 584 585 586 587 588 589 590 591 592 593 594 595 596 597 598 599 600 601 602 603 604 605 606 607 608 609 610 611 612 613 614 615 616 617 618 619 620 621 622 623 624 625 626 627 628 629 630 631 632 633 634 635 636 637 638 639 640 641 642 643 644 645 646 647 648 649 650 651 652 653 654 655 656 657 658 659 660 661 662 663 664 665 666 667 668 669 670 671 672 673 674 675 676 677 678 679 680 681 682 683 684 685 686
|
/*
* Copyright (C) 2014-2021 Brian L. Browning
*
* This file is part of Beagle
*
* Beagle 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.
*
* Beagle 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/>.
*/
package vcf;
import blbutil.Const;
import blbutil.StringUtil;
import java.util.Arrays;
import java.util.Collections;
import java.util.HashMap;
import java.util.Map;
import java.util.stream.IntStream;
/**
* <p>Class {@code VcfRec} represents a VCF record. If one allele in a
* diploid genotype is missing, then both alleles are set to missing.
* </p>
* <p>Instances of class {@code VcfRec} are immutable.
* </p>
*
* @author Brian L. Browning {@code <browning@uw.edu>}
*/
public final class VcfRec implements GTRec {
/**
* The VCF FORMAT code for log-scaled genotype likelihood data: "GL".
*/
public static final String GL_FORMAT = "GL";
/**
* The VCF FORMAT code for phred-scaled genotype likelihood data: "PL".
*/
public static final String PL_FORMAT = "PL";
private static final int SAMPLE_OFFSET = 9;
private final VcfHeader vcfHeader;
private final String vcfRecord;
private final int[] delimiters;
private final Marker marker;
private final String[] formatFields;
private final Map<String, Integer> formatMap;
private final GTRec gtRec;
private final float[] gls;
/**
* Returns the VCF genotype index for the specified pair of alleles.
* @param a1 the first allele
* @param a2 the second allele
* @return the VCF genotype index for the specified pair of alleles
* @throws IllegalArgumentException if {@code a1 < 0 || a2 < 0}
*/
public static int gtIndex(int a1, int a2) {
if (a1 < 0) {
throw new IllegalArgumentException("a1<0: " + a1);
}
if (a2 < 0) {
throw new IllegalArgumentException("a2<0: " + a2);
} else if (a1 < a2) {
return (a2 * (a2 + 1)) / 2 + a1;
} else {
return (a1 * (a1 + 1)) / 2 + a2;
}
}
private VcfRec(VcfHeader vcfHeader, String vcfRecord, boolean useGT,
boolean useGL, float maxLR) {
this.vcfHeader = vcfHeader;
this.vcfRecord = vcfRecord;
this.delimiters = delimiters(vcfHeader, vcfRecord);
this.marker = new BasicMarker(vcfRecord);
this.formatFields = formats(format());
this.formatMap = formatToIndexMap(vcfHeader, vcfRecord, formatFields);
boolean storeGT = useGT && formatMap.containsKey("GT");
boolean storeGL = useGL &&
(formatMap.containsKey("PL") || formatMap.containsKey("GL"));
if (storeGT==false && storeGL==false) {
String s = "Missing required data: " + vcfRecord;
throw new IllegalArgumentException(s);
}
this.gtRec = storeGT ?
new BasicGTRec(new VcfRecGTParser(vcfHeader, vcfRecord)) : null;
this.gls = storeGL ? likelihoodsFromGL(maxLR) : null;
}
/**
* Constructs and returns a new {@code VcfRec} instance from a
* VCF record and its GT format subfield data
*
* @param vcfHeader meta-information lines and header line for the
* specified VCF record.
* @param vcfRecord a VCF record with a GL format field corresponding to
* the specified {@code vcfHeader} object
* @return a new {@code VcfRec} instance
*
* @throws IllegalArgumentException if the VCF record does not have a
* GT format field
* @throws IllegalArgumentException if a VCF record format error is
* detected
* @throws IllegalArgumentException if there are not
* {@code vcfHeader.nHeaderFields()} tab-delimited fields in the
* specified VCF record
* @throws NullPointerException if
* {@code vcfHeader == null || vcfRecord == null}
*/
public static VcfRec fromGT(VcfHeader vcfHeader, String vcfRecord) {
boolean useGT = true;
boolean useGL = false;
float maxLR = Float.NaN;
return new VcfRec(vcfHeader, vcfRecord, useGT, useGL, maxLR);
}
/**
* Constructs and returns a new {@code VcfRec} instance from a
* VCF record and its GL or PL format subfield data. If both
* GL and PL format subfields are present, the GL format field will be used.
* If the maximum normalized genotype likelihood is 1.0 for a sample,
* then any other genotype likelihood for the sample that is less than
* {@code lrThreshold} is set to 0.
*
* @param vcfHeader meta-information lines and header line for the
* specified VCF record
* @param vcfRecord a VCF record with a GL format field corresponding to
* the specified {@code vcfHeader} object
* @param maxLR the maximum likelihood ratio
* @return a new {@code VcfRec} instance
*
* @throws IllegalArgumentException if the VCF record does not have a
* GL format field
* @throws IllegalArgumentException if a VCF record format error is
* detected
* @throws IllegalArgumentException if there are not
* {@code vcfHeader.nHeaderFields()} tab-delimited fields in the
* specified VCF record
* @throws NullPointerException if
* {@code vcfHeader == null || vcfRecord == null}
*/
public static VcfRec fromGL(VcfHeader vcfHeader, String vcfRecord,
float maxLR) {
boolean useGT = false;
boolean useGL = true;
return new VcfRec(vcfHeader, vcfRecord, useGT, useGL, maxLR);
}
/**
* Constructs and returns a new {@code VcfRec} instance from a VCF
* record and its GT, GL, and PL format subfield data.
* If the GT format subfield is present and non-missing, the
* GT format subfield is used to determine genotype likelihoods. Otherwise
* the GL or PL format subfield is used to determine genotype likelihoods.
* If both the GL and PL format subfields are present, only the GL format
* subfield will be used. If the maximum normalized genotype likelihood
* is 1.0 for a sample, then any other genotype likelihood for the sample
* that is less than {@code lrThreshold} is set to 0.
*
* @param vcfHeader meta-information lines and header line for the
* specified VCF record
* @param vcfRecord a VCF record with a GT, a GL or a PL format field
* corresponding to the specified {@code vcfHeader} object
* @param maxLR the maximum likelihood ratio
* @return a new {@code VcfRec}
*
* @throws IllegalArgumentException if the VCF record does not have a
* GT, GL, or PL format field
* @throws IllegalArgumentException if a VCF record format error is
* detected
* @throws IllegalArgumentException if there are not
* {@code vcfHeader.nHeaderFields()} tab-delimited fields in the
* specified VCF record
* @throws NullPointerException if
* {@code vcfHeader == null || vcfRecord == null}
*/
public static VcfRec fromGTGL(VcfHeader vcfHeader, String vcfRecord,
float maxLR) {
boolean useGT = true;
boolean useGL = true;
return new VcfRec(vcfHeader, vcfRecord, useGT, useGL, maxLR);
}
private static int[] delimiters(VcfHeader vcfHeader, String vcfRecord) {
int nFields = vcfHeader.nHeaderFields();
int[] delimiters = new int[nFields + 1];
delimiters[0] = -1;
for (int j=1; j<nFields; ++j) {
delimiters[j] = vcfRecord.indexOf(Const.tab, delimiters[j-1] + 1);
if (delimiters[j] == -1) {
fieldCountError(vcfHeader, vcfRecord);
}
}
if (vcfRecord.indexOf(Const.tab, delimiters[nFields-1] + 1) != -1) {
fieldCountError(vcfHeader, vcfRecord);
}
delimiters[nFields] = vcfRecord.length();
return delimiters;
}
private static void fieldCountError(VcfHeader vcfHeader, String vcfRecord) {
String src = "File source: " + vcfHeader.src();
String[] fields = StringUtil.getFields(vcfRecord, Const.tab);
String s = "VCF header line has " + vcfHeader.nHeaderFields()
+ " fields, but data line has " + fields.length + " fields"
+ Const.nl + "File source:" + src
+ Const.nl + Arrays.toString(fields);
throw new IllegalArgumentException(s);
}
/**
* Return {@code true} if all characters in the specified
* string are letters or digits and returns {@code false} otherwise.
* @param s a string.
* @return {@code true} if all characters in the specified
* string are letters or digits and returns {@code false} otherwise.
*/
private static boolean isAlphanumeric(String s) {
for (int j=0, n=s.length(); j<n; ++j) {
if (Character.isLetterOrDigit(s.charAt(j))==false) {
return false;
}
}
return true;
}
private String[] formats(String formats) {
if (formats.equals(Const.MISSING_DATA_STRING) || formats.isEmpty()) {
String s = "missing format field: " + vcfRecord;
throw new IllegalArgumentException(s);
}
String[] fields = StringUtil.getFields(formats, Const.colon);
for (String f : fields) {
if (f.isEmpty()) {
String s = "missing format in format subfield list: " + vcfRecord;
throw new IllegalArgumentException(s);
}
// Commented-out alpha-numeric check to avoid throwing an
// exception when the FORMAT subfield code is not alphanumeric.
// if (isAlphanumeric(f)==false) {
// String s = "format subfield must be alphanumeric (" + f + "): "
// + vcfRecord;
// throw new IllegalArgumentException(s);
// }
}
return fields;
}
private static Map<String, Integer> formatToIndexMap(VcfHeader vcfHeader,
String vcfRecord, String[] formatFields) {
if (vcfHeader.nSamples()==0) {
return Collections.emptyMap();
}
Map<String, Integer> map = new HashMap<>(formatFields.length);
for (int j=0; j<formatFields.length; ++j) {
map.put(formatFields[j], j);
}
if (map.containsKey("GT") && map.get("GT")!=0) {
String s = "GT format is not first format: " + vcfRecord;
throw new IllegalArgumentException(s);
}
return map;
}
/* returns exclusive end */
private int formatSubfieldEnd(int start) {
while (start < vcfRecord.length()) {
char c = vcfRecord.charAt(start);
if (c == Const.colon || c == Const.tab) {
return start;
}
++start;
}
return start;
}
private float[] likelihoodsFromGL(float maxLR) {
float minLR = 1f/maxLR;
int nGt = this.marker.nGenotypes();
String[] dataGL = hasFormat(GL_FORMAT) ? formatData(GL_FORMAT) : null;
String[] dataPL = hasFormat(PL_FORMAT) ? formatData(PL_FORMAT) : null;
double[] doubleLike = new double[nGt];
float[] floatLike = new float[vcfHeader.samples().size()*nGt];
int floatLikeIndex = 0;
for (int s=0, n=samples().size(); s<n; ++s) {
Arrays.fill(doubleLike, 0.0);
if (dataGL != null) {
String[] fields = getGL(GL_FORMAT, dataGL, s, nGt);
for (int k=0; k<nGt; ++k) {
doubleLike[k] = GL2Like(fields[k]);
}
}
else if (dataPL != null) {
String[] fields = getGL(PL_FORMAT, dataPL, s, nGt);
for (int k=0; k<nGt; ++k) {
doubleLike[k] = PL2Like(fields[k]);
}
}
rescaleToMax1(doubleLike);
for (int gt=0; gt<nGt; ++gt) {
if (doubleLike[gt] >= minLR) {
floatLike[floatLikeIndex] = (float) doubleLike[gt];
}
++floatLikeIndex;
}
}
assert floatLikeIndex==floatLike.length;
return floatLike;
}
private String[] getGL(String format, String[] sampleData,
int sample, int nGt) {
if (sampleData[sample].equals(Const.MISSING_DATA_STRING)) {
String[] fields = new String[nGt];
Arrays.fill(fields, "0");
return fields;
}
else {
String[] subfields = StringUtil.getFields(sampleData[sample],
Const.comma);
if (subfields.length!=nGt) {
String s = "unexpected number of " + format + " subfields: "
+ sampleData(sample, format) + Const.nl
+ vcfRecord;
throw new IllegalArgumentException(s);
}
for (String subfield : subfields) {
if (subfield.equals(Const.MISSING_DATA_STRING)) {
String s = "missing subfield in " + format + " field: "
+ sampleData(sample, format) + Const.nl
+ vcfRecord;
throw new IllegalArgumentException(s);
}
}
return subfields;
}
}
private static double GL2Like(String gl) {
return Math.pow(10.0, Double.parseDouble(gl));
}
private static double PL2Like(String pl) {
return Math.pow(10.0, -Integer.parseInt(pl)/10.0);
}
private static void rescaleToMax1(double[] like) {
double max = max(like);
if (max == 0.0f) {
Arrays.fill(like, 1.0);
}
else {
for (int j=0; j<like.length; ++j) {
like[j] /= max;
}
}
}
/* returns max{double[] like, double 0.0} */
private static double max(double[] like) {
double max = 0.0;
for (int k=0; k<like.length; ++k) {
if (like[k] > max) {
max = like[k];
}
}
return max;
}
/**
* Returns the QUAL field.
* @return the QUAL field
*/
public String qual() {
return vcfRecord.substring(delimiters[5] + 1, delimiters[6]);
}
/**
* Returns the FILTER field.
* @return the FILTER field
*/
public String filter() {
return vcfRecord.substring(delimiters[6] + 1, delimiters[7]);
}
/**
* Returns the INFO field.
* @return the INFO field
*/
public String info() {
return vcfRecord.substring(delimiters[7] + 1, delimiters[8]);
}
/**
* Returns the FORMAT field. Returns the empty string ("") if the FORMAT
* field is missing.
* @return the FORMAT field
*/
public String format() {
if (delimiters.length > 9) {
return vcfRecord.substring(delimiters[8] + 1, delimiters[9]);
}
else {
return "";
}
}
/**
* Returns the number of FORMAT subfields.
* @return the number of FORMAT subfields
*/
public int nFormatSubfields() {
return formatFields.length;
}
/**
* Returns the specified FORMAT subfield.
* @param subfieldIndex a FORMAT subfield index
* @return the specified FORMAT subfield
*
* @throws IndexOutOfBoundsException if
* {@code subfieldIndex < 0 || subfieldIndex >= this.nFormatSubfields()}
*/
public String formatSubfield(int subfieldIndex) {
if (formatFields==null) {
throw new IllegalArgumentException("No format exists");
}
return formatFields[subfieldIndex];
}
/**
* Returns {@code true} if the specified FORMAT subfield is
* present, and returns {@code false} otherwise.
* @param formatCode a FORMAT subfield code
* @return {@code true} if the specified FORMAT subfield is
* present
*/
public boolean hasFormat(String formatCode) {
return formatMap.get(formatCode)!=null;
}
/**
* Returns the index of the specified FORMAT subfield if the
* specified subfield is defined for this VCF record, and returns -1
* otherwise.
* @param formatCode the format subfield code
* @return the index of the specified FORMAT subfield if the
* specified subfield is defined for this VCF record, and {@code -1}
* otherwise
*/
public int formatIndex(String formatCode) {
Integer index = formatMap.get(formatCode);
return (index==null) ? -1 : index;
}
/**
* Returns the data for the specified sample.
* @param sample a sample index
* @return the data for the specified sample
*
* @throws IndexOutOfBoundsException if
* {@code sample < 0 || sample >= this.size()}
*/
public String sampleData(int sample) {
int index = vcfHeader.unfilteredSampleIndex(sample);
return vcfRecord.substring(delimiters[index + SAMPLE_OFFSET] + 1,
delimiters[index + SAMPLE_OFFSET + 1]);
}
/**
* Returns the specified data for the specified sample.
* @param sample a sample index
* @param formatCode a FORMAT subfield code
* @return the specified data for the specified sample
*
* @throws IllegalArgumentException if
* {@code this.hasFormat(formatCode)==false}
* @throws IndexOutOfBoundsException if
* {@code sample < 0 || sample >= this.size()}
*/
public String sampleData(int sample, String formatCode) {
Integer formatIndex = formatMap.get(formatCode);
if (formatIndex==null) {
String s = "missing format data: " + formatCode;
throw new IllegalArgumentException(s);
}
return VcfRec.this.sampleData(sample, formatIndex);
}
/**
* Returns the specified data for the specified sample.
* @param sample a sample index
* @param subfieldIndex a FORMAT subfield index
* @return the specified data for the specified sample
*
* @throws IndexOutOfBoundsException if
* {@code field < 0 || field >= this.nFormatSubfields()}
* @throws IndexOutOfBoundsException if
* {@code sample < 0 || sample >= this.size()}
*/
public String sampleData(int sample, int subfieldIndex) {
if (subfieldIndex < 0 || subfieldIndex >= formatFields.length) {
throw new IndexOutOfBoundsException(String.valueOf(subfieldIndex));
}
int index = SAMPLE_OFFSET + vcfHeader.unfilteredSampleIndex(sample);
int start = delimiters[index] + 1;
for (int j = 0; j < subfieldIndex; ++j) {
int end = formatSubfieldEnd(start);
if (end==vcfRecord.length() || vcfRecord.charAt(end)==Const.tab) {
return ".";
}
else {
start = end + 1;
}
}
int end = formatSubfieldEnd(start);
if (end==start) {
return ".";
}
else {
return vcfRecord.substring(start, end);
}
}
/**
* Returns an array of length {@code this.size()}
* containing the specified FORMAT subfield data for each sample. The
* {@code k}-th element of the array is the specified FORMAT subfield data
* for the {@code k}-th sample.
* @param formatCode a format subfield code
* @return an array of length {@code this.size()}
* containing the specified FORMAT subfield data for each sample
*
* @throws IllegalArgumentException if
* {@code this.hasFormat(formatCode) == false}
*/
public String[] formatData(String formatCode) {
Integer formatIndex = formatMap.get(formatCode);
if (formatIndex==null) {
String s = "missing format data: " + formatCode;
throw new IllegalArgumentException(s);
}
String[] sa = new String[vcfHeader.nSamples()];
for (int j=0; j<sa.length; ++j) {
sa[j] = sampleData(j, formatIndex);
}
return sa;
}
@Override
public Samples samples() {
return vcfHeader.samples();
}
/**
* Returns the VCF meta-information lines and the VCF header line.
* @return the VCF meta-information lines and the VCF header line
*/
public VcfHeader vcfHeader() {
return vcfHeader;
}
@Override
public Marker marker() {
return marker;
}
@Override
public int allele1(int sample) {
return gtRec == null ? -1 : gtRec.allele1(sample);
}
@Override
public int allele2(int sample) {
return gtRec == null ? -1 : gtRec.allele2(sample);
}
@Override
public int get(int hap) {
return gtRec == null ? -1 : gtRec.get(hap);
}
@Override
public int[] alleles() {
if (gtRec==null) {
return IntStream.range(0, size())
.map(h -> -1)
.toArray();
}
else {
return gtRec.alleles();
}
}
@Override
public boolean isPhased(int sample) {
return gtRec == null ? false : gtRec.isPhased(sample);
}
@Override
public boolean isPhased() {
return gtRec == null ? false : gtRec.isPhased();
}
/**
* Returns the probability of the observed data for the specified sample
* if the specified pair of ordered alleles is the true ordered genotype.
* Returns {@code 1.0f} if the corresponding genotype determined by the
* {@code isPhased()}, {@code allele1()}, and {@code allele2()} methods
* is consistent with the specified ordered genotype, and returns
* {@code 0.0f} otherwise.
* @param sample the sample index
* @param allele1 the first allele index
* @param allele2 the second allele index
* @return the probability of the observed data for the specified sample
* if the specified pair of ordered alleles is the true ordered genotype.
*
* @throws IndexOutOfBoundsException if
* {@code samples < 0 || samples >= this.size()}
* @throws IndexOutOfBoundsException if
* {@code allele1 < 0 || allele1 >= this.marker().nAlleles()}
* @throws IndexOutOfBoundsException if
* {@code allele2 < 0 || allele2 >= this.marker().nAlleles()}
*/
public float gl(int sample, int allele1, int allele2) {
if (allele1<0 || allele1>=marker.nAlleles()) {
throw new IllegalArgumentException(String.valueOf(allele1));
}
if (allele2<0 || allele2>=marker.nAlleles()) {
throw new IllegalArgumentException(String.valueOf(allele2));
}
if (gtRec==null
|| (gls!=null
&& (gtRec.allele1(sample) == -1 || gtRec.allele2(sample) == -1))) {
int n = marker.nAlleles();
if (allele1 < 0 || allele2 < 0 || allele1 >= n || allele2 >= n) {
String s = allele1 + " " + allele2 + " " + n;
throw new ArrayIndexOutOfBoundsException(s);
}
int gtIndex = VcfRec.gtIndex(allele1, allele2);
return gls[(sample*marker.nGenotypes()) + gtIndex];
}
else {
int a1 = gtRec.allele1(sample);
int a2 = gtRec.allele2(sample);
if ((a1<0 || a2<0) || (a1==allele1 && a2==allele2)
|| (isPhased(sample)==false && (a1==allele2 && a2==allele1))) {
return 1f;
}
else {
return 0f;
}
}
}
@Override
public int size() {
return 2*vcfHeader.nSamples();
}
/**
* Returns the VCF record.
* @return the VCF record
*/
@Override
public String toString() {
return vcfRecord;
}
}
|