Length metric updates to QualifyMissingIntervals
* add a length of the overlaping interval metric as per CSER request * standardized the distance metrics to be positive when fully overlapping and the longest off-target tail (as a negative number) when not overlapping * add gatkdocs to the tool (finally!)
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@ -76,10 +76,12 @@ import java.util.List;
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* <ul>
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* <ul>
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* <li>Average Base Quality</li>
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* <li>Average Base Quality</li>
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* <li>Average Mapping Quality</li>
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* <li>Average Mapping Quality</li>
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* <li>Average Depth</li>
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* <li>GC Content</li>
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* <li>GC Content</li>
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* <li>Position in the target</li>
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* <li>Position in the target (Integer.MIN_VALUE if no overlap)</li>
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* <li>Coding Sequence / Intron</li>
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* <li>Length of the overlapping target (zero if no overlap)</li>
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* <li>Length of the uncovered area</li>
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* <li>Coding Sequence / Intron (optional)</li>
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* <li>Length of the uncovered interval</li>
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* </ul>
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* </ul>
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*
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*
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* <h3>Input</h3>
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* <h3>Input</h3>
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@ -89,7 +91,7 @@ import java.util.List;
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*
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*
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* <h3>Output</h3>
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* <h3>Output</h3>
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* <p>
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* <p>
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* GC content calculations per interval.
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* GC content, distance from the end of the target, coding sequence intersection, mapping and base quality averages and average depth per "missing" interval.
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* </p>
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* </p>
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*
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*
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* <h3>Example</h3>
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* <h3>Example</h3>
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@ -108,12 +110,24 @@ import java.util.List;
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@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_QC, extraDocs = {CommandLineGATK.class} )
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@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_QC, extraDocs = {CommandLineGATK.class} )
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@By(DataSource.REFERENCE)
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@By(DataSource.REFERENCE)
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public final class QualifyMissingIntervals extends LocusWalker<Metrics, Metrics> implements NanoSchedulable {
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public final class QualifyMissingIntervals extends LocusWalker<Metrics, Metrics> implements NanoSchedulable {
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/**
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* A single GATKReport table with the qualifications on why the intervals passed by the -L argument were missing.
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*/
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@Output
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@Output
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protected PrintStream out;
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protected PrintStream out;
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/**
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* List of targets used in the experiment. This file will be used to calculate the distance your missing
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* intervals are to the targets (usually exons). Typically this is your hybrid selection targets file
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* (e.g. Agilent exome target list)
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*/
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@Argument(shortName = "targets", required = true)
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@Argument(shortName = "targets", required = true)
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public String targetsFile;
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public String targetsFile;
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/**
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* List of coding sequence intervals (exons) if different from the targets file, to distinguish intervals
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* that overlap the cds and intervals that don't.
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*/
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@Argument(shortName = "cds", required = false)
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@Argument(shortName = "cds", required = false)
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public String cdsFile = null;
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public String cdsFile = null;
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@ -224,15 +238,18 @@ public final class QualifyMissingIntervals extends LocusWalker<Metrics, Metrics>
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public void onTraversalDone(List<Pair<GenomeLoc, Metrics>> results) {
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public void onTraversalDone(List<Pair<GenomeLoc, Metrics>> results) {
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for (Pair<GenomeLoc, Metrics> r : results) {
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for (Pair<GenomeLoc, Metrics> r : results) {
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GenomeLoc interval = r.getFirst();
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final GenomeLoc interval = r.getFirst();
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Metrics metrics = r.getSecond();
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final Metrics metrics = r.getSecond();
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final List<GenomeLoc> overlappingIntervals = target.getOverlapping(interval);
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simpleReport.addRow(
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simpleReport.addRow(
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interval.toString(),
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interval.toString(),
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metrics.gccontent(),
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metrics.gccontent(),
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metrics.baseQual(),
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metrics.baseQual(),
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metrics.mapQual(),
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metrics.mapQual(),
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metrics.depth(),
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metrics.depth(),
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getPositionInTarget(interval),
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getPositionInTarget(interval, overlappingIntervals),
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getTargetSize(overlappingIntervals),
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cds.overlaps(interval),
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cds.overlaps(interval),
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interval.size(),
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interval.size(),
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interpret(metrics, interval)
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interpret(metrics, interval)
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@ -242,13 +259,34 @@ public final class QualifyMissingIntervals extends LocusWalker<Metrics, Metrics>
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out.close();
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out.close();
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}
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}
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private int getPositionInTarget(GenomeLoc interval) {
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private int getPositionInTarget(final GenomeLoc interval, final List<GenomeLoc> hits) {
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final List<GenomeLoc> hits = target.getOverlapping(interval);
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if (hits.size() > 0) {
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int result = 0;
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final GenomeLoc hit = hits.get(0);
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for (GenomeLoc hit : hits) {
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result = interval.getStart() - hit.getStart(); // if there are multiple hits, we'll get the last one.
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// interval is larger on both ends than the target -- return the maximum distance to either side as a negative number. (min of 2 negative numbers)
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if (interval.getStart() < hit.getStart() && interval.getStop() > hit.getStop())
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return Math.min(interval.getStart() - hit.getStart(),
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interval.getStop() - hit.getStop());
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// interval is a left overlap -- return a negative number representing the distance between the two starts
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else if (interval.getStart() < hit.getStart())
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return hit.getStart() - interval.getStart();
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// interval is a right overlap -- return a negative number representing the distance between the two stops
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else if (interval.getStop() > hit.getStop())
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return hit.getStop() - interval.getStop();
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// interval is fully contained -- return the smallest distance to the edge of the target (left or right) as a positive number
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else
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return Math.min(Math.abs(hit.getStart() - interval.getStart()),
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Math.abs(hit.getStop() - interval.getStop()));
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}
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}
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return result;
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// if there is no overlapping interval, return int min value.
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return Integer.MIN_VALUE;
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}
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private int getTargetSize(final List<GenomeLoc> overlappingIntervals) {
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return overlappingIntervals.size() > 0 ? overlappingIntervals.get(0).size() : -1;
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}
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}
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String interpret(final Metrics metrics, final GenomeLoc interval) {
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String interpret(final Metrics metrics, final GenomeLoc interval) {
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