private static void findIndividualPerSequenceCoverage(
Calibrator calibrator,
Map<String, Integer> sequenceLengths,
Map<String, String> readGroupToSampleId,
final Map<String, HashMap<String, CalibrationStats>> local,
RegionRestriction restriction) {
final Covariate rgCovariate =
calibrator.getCovariate(calibrator.getCovariateIndex(CovariateEnum.READGROUP));
final Covariate seqCovariate =
calibrator.getCovariate(calibrator.getCovariateIndex(CovariateEnum.SEQUENCE));
for (final Map.Entry<String, Integer> entry : sequenceLengths.entrySet()) {
final String sequenceName = entry.getKey();
if (restriction != null && !sequenceName.equals(restriction.getSequenceName())) {
continue;
}
for (final Map.Entry<String, String> e2 : readGroupToSampleId.entrySet()) {
final String readGroup = e2.getKey();
final String sampleName = e2.getValue();
final int rgValue = rgCovariate.valueOf(readGroup);
final int seqValue = seqCovariate.valueOf(sequenceName);
if (rgValue == -1 || seqValue == -1) {
add(local, sampleName, sequenceName, new CalibrationStats(null));
} else {
final Calibrator.QuerySpec spec = calibrator.initQuery();
spec.setValue(CovariateEnum.READGROUP, rgValue);
spec.setValue(CovariateEnum.SEQUENCE, seqValue);
calibrator.processStats(new LocalStatsProcessor(local, sampleName, sequenceName), spec);
}
}
}
}
public SingleRestrictionLineReader(File input, TabixIndexReader tir, RegionRestriction region)
throws IOException {
if (region == null) {
throw new NullPointerException();
}
mSequence = region.getSequenceName();
mBeg = region.getStart();
mEnd = region.getEnd();
final BlockCompressedLineReader bclr =
new BlockCompressedLineReader(new BlockCompressedInputStream(input));
mBCPositionReader =
tir.getOptions().mFormat == TabixIndexer.TabixOptions.FORMAT_VCF
? new VcfPositionReader(bclr, tir.getOptions().mSkip)
: new GenericPositionReader(bclr, tir.getOptions());
mRange = tir.getFilePointers(region);
if (mRange != null) {
mBCPositionReader.seek(mRange.start(0));
}
}
/**
* Finish constructing the references and link in duplicates.
*
* @param names the ordered set of reference sequence names
* @param parse results from parsing.
*/
private void postProcessing(Map<String, Integer> names, final ReferenceParse parse) {
mReferences = new LinkedHashMap<>();
// deal with sequences in genome but explicitly described.
for (final Map.Entry<String, Integer> entry : names.entrySet()) {
final String name = entry.getKey();
if (parse.mReferences.containsKey(
name)) { // have seen explicitly declared seq line, so copy from parse
mReferences.put(name, parse.mReferences.get(name));
continue;
}
if (parse.mPloidyDefault == null) {
parse.error("No default specified but required for sequence:" + name);
return;
}
try {
mReferences.put(
name,
new ReferenceSequence(
false, parse.mLinearDefault, parse.mPloidyDefault, name, null, entry.getValue()));
} catch (final IllegalArgumentException e) {
throw new NoTalkbackSlimException("Invalid reference file. " + e.getMessage());
}
}
// add duplicate information into sequence entries
for (final Pair<RegionRestriction, RegionRestriction> duplicate : parse.mDuplicates) {
final RegionRestriction r1 = duplicate.getA();
if (!mReferences.containsKey(r1.getSequenceName())) {
continue;
}
final RegionRestriction r2 = duplicate.getB();
if (!mReferences.containsKey(r2.getSequenceName())) {
continue;
}
try {
mReferences.get(r1.getSequenceName()).addDuplicate(duplicate);
mReferences.get(r2.getSequenceName()).addDuplicate(duplicate);
} catch (final IllegalArgumentException e) {
throw new NoTalkbackSlimException("Invalid reference file. " + e.getMessage());
}
}
}
/**
* @param calibrator the mapping calibration stats to use when computing coverage
* @param defaultSequenceLengths map of sequence names to sequence length, used if not already set
* in the calibrator
* @param readGroupToSampleId read group to sample id
* @param restriction a region restriction, may be null
*/
public CalibratedPerSequenceExpectedCoverage(
Calibrator calibrator,
Map<String, Integer> defaultSequenceLengths,
Map<String, String> readGroupToSampleId,
RegionRestriction restriction) {
mSequenceSampleCoverages = new HashMap<>();
mSumCoverages = new HashMap<>();
mSamples = Collections.unmodifiableSet(new HashSet<>(readGroupToSampleId.values()));
final Map<String, Integer> sequenceLengths =
calibrator.hasLengths() ? calibrator.getSequenceLengths() : defaultSequenceLengths;
if (calibrator.getCovariateIndex(CovariateEnum.SEQUENCE)
== -1) { // No per sequence separation in calibration data, calculate per-genome coverage
// level
long length = 0;
for (final Map.Entry<String, Integer> entry : sequenceLengths.entrySet()) {
length += entry.getValue();
}
final Map<String, HashMap<String, CalibrationStats>> local = new HashMap<>();
findIndividualGlobalCoverage(calibrator, readGroupToSampleId, local);
double currentMax = 0;
double currentSum = 0;
for (Map.Entry<String, HashMap<String, CalibrationStats>> e : local.entrySet()) {
final HashMap<String, CalibrationStats> map = e.getValue();
if (map.containsKey(DUMMY_SEQ)) {
final double currentCov =
(length == 0) ? 0 : (double) map.get(DUMMY_SEQ).getTotalLength() / length;
final String sampleName = e.getKey();
Diagnostic.userLog(
"Average coverage for sample "
+ sampleName
+ " is "
+ Utils.realFormat(currentCov, 2));
for (final Map.Entry<String, Integer> entry : sequenceLengths.entrySet()) {
final String seqName = entry.getKey();
Map<String, Double> samples = mSequenceSampleCoverages.get(seqName);
if (samples == null) {
samples = new HashMap<>();
mSequenceSampleCoverages.put(seqName, samples);
}
samples.put(sampleName, currentCov);
}
currentSum += currentCov;
if (currentCov > currentMax) {
currentMax = currentCov;
}
}
}
Diagnostic.userLog("Average combined coverage is " + Utils.realFormat(currentSum, 2));
for (final Map.Entry<String, Integer> entry : sequenceLengths.entrySet()) {
final String seqName = entry.getKey();
mSumCoverages.put(seqName, currentSum);
}
} else { // Per-sequence separation is in calibration data, calculate per-sequence coverage
// level
final Map<String, HashMap<String, CalibrationStats>> local = new HashMap<>();
findIndividualPerSequenceCoverage(
calibrator, sequenceLengths, readGroupToSampleId, local, restriction);
for (final Map.Entry<String, Integer> entry : sequenceLengths.entrySet()) {
final String seqName = entry.getKey();
if (restriction != null && !seqName.equals(restriction.getSequenceName())) {
continue;
}
final int seqLength = entry.getValue();
double currentMax = 0;
double currentSum = 0;
for (Map.Entry<String, HashMap<String, CalibrationStats>> e : local.entrySet()) {
final HashMap<String, CalibrationStats> map = e.getValue();
if (map.containsKey(seqName)) {
final double currentCov =
(seqLength == 0) ? 0 : (double) map.get(seqName).getTotalLength() / seqLength;
final String sampleName = e.getKey();
Diagnostic.userLog(
"Average coverage across sequence "
+ seqName
+ " for sample "
+ sampleName
+ " is "
+ Utils.realFormat(currentCov, 2));
Map<String, Double> samples = mSequenceSampleCoverages.get(seqName);
if (samples == null) {
samples = new HashMap<>();
mSequenceSampleCoverages.put(seqName, samples);
}
samples.put(sampleName, currentCov);
currentSum += currentCov;
if (currentCov > currentMax) {
currentMax = currentCov;
}
}
}
Diagnostic.userLog(
"Average combined coverage for sequence "
+ seqName
+ " is "
+ Utils.realFormat(currentSum, 2));
mSumCoverages.put(seqName, currentSum);
}
}
}
