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
|
/*
* 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.FileIt;
import blbutil.Filter;
import blbutil.InputIt;
import blbutil.SampleFileIt;
import blbutil.Utilities;
import bref.Bref3It;
import java.util.ArrayList;
import java.util.Optional;
import java.util.concurrent.ArrayBlockingQueue;
import java.util.concurrent.BlockingQueue;
import main.Par;
import main.Pedigree;
/**
* <p>Class {@code RefTargSlidingWindow} represents a sliding window of
* reference and target VCF records.</p>
*
* <p>Instances of class {@code RefTargSlidingWindow} are not thread-safe.</p>
*
* @author Brian L. Browning {@code <browning@uw.edu>}
*/
public class RefTargSlidingWindow implements SlidingWindow {
private final SampleFileIt<GTRec> targIt;
private final SampleFileIt<RefGTRec> refIt;
private final Pedigree ped;
private final GeneticMap genMap;
private final BlockingQueue<Window> q;
private final Reader reader;
private int cumTargMarkers;
private int cumRefMarkers;
private boolean noMoreWindows;
/**
* Constructs and returns a new {@code RefTargSlidingWindow} instance for
* the specified reference and target data. An exception will be thrown
* if the command line parameters are incorrectly specified.
*
* @param par the command line parameters
* @return a new {@code RefTargSlidingWindow} instance for the specified
* data
*
* @throws IllegalArgumentException if a VCF record format error is detected
* or there is no data remaining after sample and marker filtering
* @throws NullPointerException if {@code par == null}
*/
public static RefTargSlidingWindow instance(Par par) {
RefTargSlidingWindow windowIt = new RefTargSlidingWindow(par);
Thread t = new Thread(windowIt.reader);
t.setDaemon(true);
t.start();
return windowIt;
}
private RefTargSlidingWindow(Par par) {
Filter<String> sFilter = FilterUtil.sampleFilter(par.excludesamples());
Filter<Marker> mFilter = FilterUtil.markerFilter(par.excludemarkers());
this.targIt = targIt(par, sFilter, mFilter);
this.refIt = refIt(par, sFilter, mFilter);
this.ped = new Pedigree(targIt.samples(), par.ped());
this.genMap = GeneticMap.geneticMap(par.map(), par.chromInt());
this.q = new ArrayBlockingQueue<>(1);
this.reader = new Reader(par, genMap, refIt, targIt, q);
this.cumTargMarkers = 0;
this.cumRefMarkers = 0;
this.noMoreWindows = false;
}
private static SampleFileIt<GTRec> targIt(Par par, Filter<String> sFilter,
Filter<Marker> mFilter) {
FileIt<String> it = InputIt.fromGzipFile(par.gt());
SampleFileIt<GTRec> targIt = VcfIt.create(it, sFilter, mFilter,
VcfIt.TO_LOWMEM_GT_REC);
if (par.chromInt() != null) {
targIt = new IntervalVcfIt<>(targIt, par.chromInt());
}
return targIt;
}
private static SampleFileIt<RefGTRec> refIt(Par par,
Filter<String> sFilter, Filter<Marker> mFilter) {
SampleFileIt<RefGTRec> refIt;
String filename = par.ref().toString();
if (filename.endsWith(".bref")) {
String s = Const.nl + "ERROR: bref format (.bref) is not supported"
+ Const.nl + " Reference files should be in bref3 format (.bref3)";
Utilities.exit(s);
}
if (filename.endsWith(".bref3")) {
refIt = new Bref3It(par.ref(), mFilter);
} else {
if (filename.endsWith(".vcf") == false
&& filename.endsWith(".vcf.gz") == false) {
System.err.println(Const.nl
+ "WARNING: unrecognized reference file type "
+ "(expected \".bref3\", \".vcf\", or \".vcf.gz\")"
+ Const.nl);
}
FileIt<String> it = InputIt.fromGzipFile(par.ref());
refIt = RefIt.create(it, sFilter, mFilter);
}
if (par.chromInt() != null) {
refIt = new IntervalVcfIt<>(refIt, par.chromInt());
}
return refIt;
}
@Override
public Samples targSamples() {
return targIt.samples();
}
@Override
public Pedigree ped() {
return ped;
}
@Override
public GeneticMap genMap() {
return genMap;
}
@Override
public int cumTargMarkers() {
return cumTargMarkers;
}
@Override
public int cumMarkers() {
return cumRefMarkers;
}
@Override
public Optional<Window> nextWindow() {
if (noMoreWindows) {
return Optional.empty();
} else {
Window window = SlidingWindow.takeFromQ(q);
if (window.lastWindow()) {
noMoreWindows = true;
}
MarkerIndices indices = window.indices();
cumTargMarkers += (indices.nTargMarkers() - indices.targOverlapEnd());
cumRefMarkers += (indices.nMarkers() - indices.overlapEnd());
return Optional.of(window);
}
}
@Override
public void close() {
noMoreWindows = true;
targIt.close();
refIt.close();
}
/**
* Returns a string representation of {@code this}. The exact details of the
* representation are unspecified and subject to change.
*
* @return a string representation of {@code this}.
*/
@Override
public String toString() {
return RefTargSlidingWindow.class.toString();
}
private static class Reader implements Runnable {
private final GeneticMap genMap;
private final float windowCM;
private final float overlapCM;
private final boolean impute;
private final SampleFileIt<RefGTRec> refIt;
private final SampleFileIt<GTRec> targIt;
private final BlockingQueue<Window> q;
private final ArrayList<GTRec> targOverlap;
private final ArrayList<RefGTRec> refOverlap;
private final ArrayList<Boolean> inTargOverlap;
private final ArrayList<GTRec> targRecs;
private final ArrayList<RefGTRec> refRecs;
private final ArrayList<Boolean> inTarg;
private GTRec nextTargRec;
private RefGTRec nextRefRec;
public Reader(Par par, GeneticMap genMap,
SampleFileIt<RefGTRec> refIt, SampleFileIt<GTRec> targIt,
BlockingQueue<Window> q) {
this.genMap = genMap;
this.windowCM = par.window();
this.overlapCM = par.overlap();
this.impute = par.impute();
this.targIt = targIt;
this.refIt = refIt;
this.q = q;
this.targOverlap = new ArrayList<>();
this.refOverlap = new ArrayList<>();
this.inTargOverlap = new ArrayList<>();
this.targRecs = new ArrayList<>(10000);
this.refRecs = new ArrayList<>(10000);
this.inTarg = new ArrayList<>(10000);
}
@Override
public void run() {
try {
if (targIt.hasNext()==false || refIt.hasNext()==false) {
throw new IllegalArgumentException("no genotype data");
}
nextTargRec = targIt.next();
nextRefRec = refIt.next();
int windowIndex = 0;
double endCm = Double.NaN;
while (nextTargRec!=null && nextRefRec!=null) {
int chromIndex = nextTargRec.marker().chromIndex();
advanceRefItToChrom(refIt, chromIndex);
endCm = nextEndCm(endCm);
int endPos = genMap.basePos(chromIndex, endCm);
Window window = readWindow(chromIndex, endPos, ++windowIndex);
SlidingWindow.addToQ(q, window);
int targOverlapStart = window.indices().targOverlapStart();
int refOverlapStart = window.indices().overlapStart();
targOverlap.addAll(targRecs.subList(targOverlapStart, targRecs.size()));
refOverlap.addAll(refRecs.subList(refOverlapStart, refRecs.size()));
inTargOverlap.addAll(inTarg.subList(refOverlapStart, inTarg.size()));
}
} catch (Throwable e) {
Utilities.exit(e);
}
}
private double nextEndCm(double endCm) {
if (refOverlap.isEmpty()) {
endCm = genMap.genPos(nextRefRec.marker()) + windowCM;
} else {
endCm += (windowCM - overlapCM);
}
return endCm;
}
private Window readWindow(int chromIndex, int endPos, int windowIndex) {
int refOverlapEnd = refOverlap.size();
resetLists();
while (nextTargRec != null
&& nextTargRec.marker().chromIndex() == chromIndex
&& nextTargRec.marker().pos() < endPos) {
Marker targMarker = nextTargRec.marker();
int targPos = targMarker.pos();
while (nextRefRec != null
&& nextRefRec.marker().chromIndex()==chromIndex
&& (nextRefRec.marker().pos() < targPos
|| (nextRefRec.marker().pos() == targPos && targMarker.equals(nextRefRec.marker()) == false))) {
if (impute) {
refRecs.add(nextRefRec);
inTarg.add(Boolean.FALSE);
}
nextRefRec = refIt.hasNext() ? refIt.next() : null;
}
if (nextRefRec!=null && nextRefRec.marker().equals(targMarker)) {
targRecs.add(nextTargRec);
refRecs.add(nextRefRec);
inTarg.add(Boolean.TRUE);
nextRefRec = refIt.hasNext() ? refIt.next() : null;
}
nextTargRec = targIt.hasNext() ? targIt.next() : null;
}
if (impute) {
while (nextRefRec!=null
&& nextRefRec.marker().chromIndex()==chromIndex
&& nextRefRec.marker().pos()<endPos) {
refRecs.add(nextRefRec);
inTarg.add(Boolean.FALSE);
nextRefRec = refIt.hasNext() ? refIt.next() : null;
}
}
return window(refOverlapEnd, windowIndex);
}
private void resetLists() {
targRecs.clear();
refRecs.clear();
inTarg.clear();
targRecs.addAll(targOverlap);
refRecs.addAll(refOverlap);
inTarg.addAll(inTargOverlap);
targOverlap.clear();
refOverlap.clear();
inTargOverlap.clear();
}
private Window window(int refOverlapEnd, int windowIndex) {
if (refRecs.isEmpty()) {
String s = Const.nl
+ Const.nl + "Marker window contains no reference markers. Do the reference and"
+ Const.nl + "target VCF files contain the same chromosomes in the same order?"
+ Const.nl;
throw new IllegalArgumentException(s);
}
RefGT refGT = new RefGT(refRecs.toArray(new RefGTRec[0]));
BasicGT targGT = new BasicGT(targRecs.toArray(new GTRec[0]));
boolean lastWindow = (nextTargRec==null || nextRefRec==null);
MarkerIndices markerIndices = markerIndices(refGT, lastWindow, refOverlapEnd);
return new Window(genMap, windowIndex, lastWindow,
markerIndices, refGT, targGT);
}
private MarkerIndices markerIndices(RefGT refGT, boolean lastWindow,
int refOverlapEnd) {
boolean chromEnd = lastWindow
|| (refRecs.get(0).marker().chromIndex() != nextRefRec.marker().chromIndex());
int refOverlapStart = overlapStart(refGT, chromEnd, overlapCM);
boolean[] inTarget = new boolean[inTarg.size()];
for (int j=0; j<inTarget.length; ++j) {
inTarget[j] = inTarg.get(j);
}
return new MarkerIndices(inTarget, refOverlapEnd, refOverlapStart);
}
private int overlapStart(RefGT refGT, boolean chromEnd, float overlapCM) {
if (chromEnd) {
return refGT.nMarkers();
} else {
int nMarkersM1 = refGT.nMarkers() - 1;
Marker lastMarker = refGT.marker(nMarkersM1);
double endGenPos = genMap.genPos(lastMarker);
double startGenPos = endGenPos - overlapCM;
int key = genMap.basePos(lastMarker.chromIndex(), startGenPos);
int low = 0;
int high = nMarkersM1;
while (low <= high) {
int mid = (low + high) >>> 1;
int midPos = refGT.marker(mid).pos();
if (midPos < key) {
low = mid + 1;
} else if (midPos > key) {
high = mid - 1;
} else {
return firstIndexWithPos(refGT, mid);
}
}
assert high < low;
return firstIndexWithPos(refGT, Math.max(0, high));
}
}
private int firstIndexWithPos(RefGT refGT, int index) {
int pos = refGT.marker(index).pos();
while (index > 0 && refGT.marker(index - 1).pos() == pos) {
--index;
}
return index;
}
private void advanceRefItToChrom(SampleFileIt<RefGTRec> refIt, int chromIndex) {
while (nextRefRec!=null
&& nextRefRec.marker().chromIndex() != chromIndex
&& refIt.hasNext()) {
nextRefRec = refIt.next();
}
}
}
}
|