com.github.lindenb.jvarkit.tools.vcfcmp.VcfCompareCallers.java Source code

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/*
The MIT License (MIT)
    
Copyright (c) 2014 Pierre Lindenbaum
    
Permission is hereby granted, free of charge, to any person obtaining a copy
of this software and associated documentation files (the "Software"), to deal
in the Software without restriction, including without limitation the rights
to use, copy, modify, merge, publish, distribute, sublicense, and/or sell
copies of the Software, and to permit persons to whom the Software is
furnished to do so, subject to the following conditions:
    
The above copyright notice and this permission notice shall be included in all
copies or substantial portions of the Software.
    
THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, EXPRESS OR
IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES OF MERCHANTABILITY,
FITNESS FOR A PARTICULAR PURPOSE AND NONINFRINGEMENT. IN NO EVENT SHALL THE
AUTHORS OR COPYRIGHT HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER
LIABILITY, WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING FROM,
OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR OTHER DEALINGS IN THE
SOFTWARE.
    
    
History:
* 2014 creation
    
*/
package com.github.lindenb.jvarkit.tools.vcfcmp;

import htsjdk.samtools.SAMSequenceDictionary;
import htsjdk.samtools.util.CloserUtil;
import htsjdk.samtools.util.SequenceUtil;
import htsjdk.variant.variantcontext.Allele;
import htsjdk.variant.variantcontext.Genotype;
import htsjdk.variant.variantcontext.VariantContext;
import htsjdk.variant.vcf.VCFHeader;

import java.io.PrintStream;
import java.io.PrintWriter;
import java.util.Collection;
import java.util.Comparator;
import java.util.HashMap;
import java.util.HashSet;
import java.util.List;
import java.util.Map;
import java.util.Set;
import java.util.TreeSet;

import javax.xml.stream.XMLOutputFactory;
import javax.xml.stream.XMLStreamException;
import javax.xml.stream.XMLStreamWriter;

import com.github.lindenb.jvarkit.util.Counter;
import com.github.lindenb.jvarkit.util.picard.SAMSequenceDictionaryProgress;
import com.github.lindenb.jvarkit.util.vcf.VCFUtils;
import com.github.lindenb.jvarkit.util.vcf.VcfIterator;

import htsjdk.samtools.util.Interval;

public class VcfCompareCallers extends AbstractVcfCompareCallers {
    private static final org.apache.commons.logging.Log LOG = org.apache.commons.logging.LogFactory
            .getLog(VcfCompareCallers.class);

    private enum Category {
        off_target_only_1, off_target_only_2, off_target_both, unique_to_file_1, unique_to_file_1_snp, unique_to_file_1_indel, unique_to_file_2, unique_to_file_2_snp, unique_to_file_2_indel, both_missing, common_context, common_context_snp, common_context_indel, common_context_discordant_id, called_and_same, called_and_same_hom_ref, called_and_same_hom_var, called_and_same_het, called_but_discordant, called_but_discordant_hom1_het2, called_but_discordant_het1_hom2, called_but_discordant_hom1_hom2, called_but_discordant_het1_het2, called_but_discordant_others,

    }

    public VcfCompareCallers() {
    }

    private void watch(XMLStreamWriter out, VariantContext ctx0, VariantContext ctx1, Genotype g0, Genotype g1,
            String sampleName, Counter<Category> count, Category cat) throws XMLStreamException {
        long n = count.incr(cat);
        if (out == null || n > super.numberOfExampleVariants)
            return;
        VariantContext variants[] = new VariantContext[] { ctx0, ctx1 };
        Genotype gts[] = new Genotype[] { g0, g1 };
        out.writeStartElement("diff");
        out.writeAttribute("type", cat.name());
        out.writeAttribute("sample", sampleName);
        for (int i = 0; i < 2; ++i) {
            if (variants[i] == null)
                continue;
            out.writeStartElement("variant");
            out.writeAttribute("file", String.valueOf(i + 1));
            out.writeAttribute("type", String.valueOf(variants[i].getType()));

            out.writeStartElement("chrom");
            out.writeCharacters(variants[i].getContig());
            out.writeEndElement();

            out.writeStartElement("pos");
            out.writeCharacters(String.valueOf(variants[i].getStart()));
            out.writeEndElement();

            out.writeStartElement("id");
            out.writeCharacters(variants[i].hasID() ? variants[i].getID() : ".");
            out.writeEndElement();

            out.writeStartElement("ref");
            out.writeCharacters(String.valueOf(variants[i].getReference()));
            out.writeEndElement();

            out.writeStartElement("alts");
            out.writeCharacters(String.valueOf(variants[i].getAlternateAlleles()));
            out.writeEndElement();

            if (gts[i] != null) {
                out.writeStartElement("genotype");
                out.writeAttribute("type", String.valueOf(gts[i].getType()));

                for (Allele a : gts[i].getAlleles()) {
                    out.writeStartElement("allele");
                    out.writeCharacters(a.toString());
                    out.writeEndElement();
                }
                if (gts[i].hasDP()) {
                    out.writeStartElement("dp");
                    out.writeCharacters(String.valueOf(gts[i].getDP()));
                    out.writeEndElement();
                }
                out.writeEndElement();
            }

            out.writeEndElement();
        }

        out.writeEndElement();
        out.writeCharacters("\n");
    }

    @Override
    public Collection<Throwable> call() throws Exception {
        htsjdk.samtools.util.IntervalTreeMap<Boolean> capture = null;
        PrintWriter exampleWriter = null;
        XMLStreamWriter exampleOut = null;
        PrintStream pw = null;
        VcfIterator vcfInputs[] = new VcfIterator[] { null, null };
        VCFHeader headers[] = new VCFHeader[] { null, null };
        final List<String> args = getInputFiles();
        try {
            if (args.size() == 1) {
                LOG.info("Reading from stdin and " + args.get(0));
                vcfInputs[0] = VCFUtils.createVcfIteratorStdin();
                vcfInputs[1] = VCFUtils.createVcfIterator(args.get(0));
            } else if (args.size() == 2) {
                LOG.info("Reading from stdin and " + args.get(0) + " and " + args.get(1));
                vcfInputs[0] = VCFUtils.createVcfIterator(args.get(0));
                vcfInputs[1] = VCFUtils.createVcfIterator(args.get(1));
            } else {
                return wrapException(getMessageBundle("illegal.number.of.arguments"));
            }

            if (super.captureFile != null) {
                LOG.info("Reading " + super.captureFile);
                capture = super.readBedFileAsBooleanIntervalTreeMap(super.captureFile);
            }

            for (int i = 0; i < vcfInputs.length; ++i) {
                headers[i] = vcfInputs[i].getHeader();
            }
            /* dicts */
            final SAMSequenceDictionary dict0 = headers[0].getSequenceDictionary();
            final SAMSequenceDictionary dict1 = headers[1].getSequenceDictionary();
            final Comparator<VariantContext> ctxComparator;
            if (dict0 == null && dict1 == null) {
                ctxComparator = VCFUtils.createChromPosRefComparator();
            } else if (dict0 != null && dict1 != null) {
                if (!SequenceUtil.areSequenceDictionariesEqual(dict0, dict1)) {
                    return wrapException(getMessageBundle("not.the.same.sequence.dictionaries"));
                }
                ctxComparator = VCFUtils.createTidPosRefComparator(dict0);
            } else {
                return wrapException(getMessageBundle("not.the.same.sequence.dictionaries"));
            }
            /* samples */
            Set<String> samples0 = new HashSet<>(headers[0].getSampleNamesInOrder());
            Set<String> samples1 = new HashSet<>(headers[1].getSampleNamesInOrder());
            Set<String> samples = new TreeSet<>(samples0);
            samples.retainAll(samples1);

            if (samples.size() != samples0.size() || samples.size() != samples1.size()) {
                LOG.warn("Warning: Not the same samples set. Using intersection of both lists.");
            }
            if (samples.isEmpty()) {
                return wrapException("No common samples");
            }

            Map<String, Counter<Category>> sample2info = new HashMap<String, Counter<Category>>(samples.size());
            for (String sampleName : samples) {
                sample2info.put(sampleName, new Counter<Category>());
            }

            if (super.exampleFile != null) {
                exampleWriter = new PrintWriter(exampleFile, "UTF-8");
                XMLOutputFactory xof = XMLOutputFactory.newFactory();
                exampleOut = xof.createXMLStreamWriter(exampleWriter);
                exampleOut.writeStartDocument("UTF-8", "1.0");
                exampleOut.writeStartElement("compare-callers");
            }

            SAMSequenceDictionaryProgress progress = new SAMSequenceDictionaryProgress(dict0);
            VariantContext buffer[] = new VariantContext[vcfInputs.length];
            VariantContext prev[] = new VariantContext[vcfInputs.length];
            for (;;) {
                VariantContext smallest = null;
                //refill buffer
                for (int i = 0; i < vcfInputs.length; ++i) {
                    if (buffer[i] == null && vcfInputs[i] != null) {
                        if (vcfInputs[i].hasNext()) {
                            buffer[i] = vcfInputs[i].peek();
                            /* check data are sorted */
                            if (prev[i] != null && ctxComparator.compare(prev[i], buffer[i]) > 0) {
                                return wrapException("Input " + (i + 1) + "/2 is not sorted"
                                        + (((i == 0 && dict0 == null) || (i == 1 && dict1 == null))
                                                ? "on chrom/pos/ref"
                                                : "on sequence dictionary")
                                        + ". got\n" + buffer[i] + "\nafter\n" + prev[i]);
                            }
                        } else {
                            vcfInputs[i].close();
                            vcfInputs[i] = null;
                        }
                    }

                    if (buffer[i] != null) {
                        if (smallest == null || ctxComparator.compare(buffer[i], smallest) < 0) {
                            smallest = buffer[i];
                        }
                    }
                }

                if (smallest == null)
                    break;

                VariantContext ctx0 = null;
                VariantContext ctx1 = null;
                Interval interval = null;

                if (buffer[0] != null && ctxComparator.compare(buffer[0], smallest) == 0) {
                    prev[0] = progress.watch(vcfInputs[0].next());
                    ctx0 = prev[0];
                    buffer[0] = null;
                    interval = new Interval(ctx0.getContig(), ctx0.getStart(), ctx0.getEnd());
                }
                if (buffer[1] != null && ctxComparator.compare(buffer[1], smallest) == 0) {
                    prev[1] = progress.watch(vcfInputs[1].next());
                    ctx1 = prev[1];
                    buffer[1] = null;
                    interval = new Interval(ctx1.getContig(), ctx1.getStart(), ctx1.getEnd());
                }
                boolean in_capture = true;
                if (capture != null && interval != null) {
                    in_capture = capture.containsOverlapping(interval);
                }

                for (final String sampleName : sample2info.keySet()) {
                    final Counter<Category> sampleInfo = sample2info.get(sampleName);
                    Genotype g0 = (ctx0 == null ? null : ctx0.getGenotype(sampleName));
                    Genotype g1 = (ctx1 == null ? null : ctx1.getGenotype(sampleName));
                    if (g0 != null && (g0.isNoCall() || !g0.isAvailable()))
                        g0 = null;
                    if (g1 != null && (g1.isNoCall() || !g1.isAvailable()))
                        g1 = null;

                    if (g0 == null && g1 == null) {
                        watch(exampleOut, ctx0, ctx1, g0, g1, sampleName, sampleInfo, Category.both_missing);
                        continue;
                    } else if (g0 != null && g1 == null) {
                        if (!in_capture) {
                            watch(exampleOut, ctx0, ctx1, g0, g1, sampleName, sampleInfo,
                                    Category.off_target_only_1);
                            continue;
                        }
                        watch(exampleOut, ctx0, ctx1, g0, g1, sampleName, sampleInfo, Category.unique_to_file_1);

                        if (ctx0.isIndel()) {
                            watch(exampleOut, ctx0, ctx1, g0, g1, sampleName, sampleInfo,
                                    Category.unique_to_file_1_indel);
                        } else if (ctx0.isSNP()) {
                            watch(exampleOut, ctx0, ctx1, g0, g1, sampleName, sampleInfo,
                                    Category.unique_to_file_1_snp);
                        }
                        continue;
                    } else if (g0 == null && g1 != null) {
                        if (!in_capture) {
                            watch(exampleOut, ctx0, ctx1, g0, g1, sampleName, sampleInfo,
                                    Category.off_target_only_2);
                            continue;
                        }
                        watch(exampleOut, ctx0, ctx1, g0, g1, sampleName, sampleInfo, Category.unique_to_file_2);
                        if (ctx1.isIndel()) {
                            watch(exampleOut, ctx0, ctx1, g0, g1, sampleName, sampleInfo,
                                    Category.unique_to_file_2_indel);
                        } else if (ctx1.isSNP()) {
                            watch(exampleOut, ctx0, ctx1, g0, g1, sampleName, sampleInfo,
                                    Category.unique_to_file_2_snp);
                        }
                        continue;
                    } else {
                        if (!in_capture) {
                            watch(exampleOut, ctx0, ctx1, g0, g1, sampleName, sampleInfo, Category.off_target_both);
                            continue;
                        }
                        watch(exampleOut, ctx0, ctx1, g0, g1, sampleName, sampleInfo, Category.common_context);
                        if (ctx0.isIndel() && ctx1.isIndel()) {
                            watch(exampleOut, ctx0, ctx1, g0, g1, sampleName, sampleInfo,
                                    Category.common_context_indel);
                        } else if (ctx0.isSNP() && ctx1.isSNP()) {
                            watch(exampleOut, ctx0, ctx1, g0, g1, sampleName, sampleInfo,
                                    Category.common_context_snp);
                        }

                        if ((ctx0.hasID() && !ctx1.hasID()) || (!ctx0.hasID() && ctx1.hasID())
                                || (ctx0.hasID() && ctx1.hasID() && !ctx0.getID().equals(ctx1.getID()))) {
                            watch(exampleOut, ctx0, ctx1, g0, g1, sampleName, sampleInfo,
                                    Category.common_context_discordant_id);
                        }

                        if (g0.sameGenotype(g1)) {
                            watch(exampleOut, ctx0, ctx1, g0, g1, sampleName, sampleInfo, Category.called_and_same);

                            if (g0.isHomRef()) {
                                watch(exampleOut, ctx0, ctx1, g0, g1, sampleName, sampleInfo,
                                        Category.called_and_same_hom_ref);
                            }
                            if (g0.isHomVar()) {
                                watch(exampleOut, ctx0, ctx1, g0, g1, sampleName, sampleInfo,
                                        Category.called_and_same_hom_var);
                            } else if (g0.isHet()) {
                                watch(exampleOut, ctx0, ctx1, g0, g1, sampleName, sampleInfo,
                                        Category.called_and_same_het);
                            }
                        } else {
                            watch(exampleOut, ctx0, ctx1, g0, g1, sampleName, sampleInfo,
                                    Category.called_but_discordant);

                            if (g0.isHom() && g1.isHet()) {
                                watch(exampleOut, ctx0, ctx1, g0, g1, sampleName, sampleInfo,
                                        Category.called_but_discordant_hom1_het2);
                            } else if (g0.isHet() && g1.isHom()) {
                                watch(exampleOut, ctx0, ctx1, g0, g1, sampleName, sampleInfo,
                                        Category.called_but_discordant_het1_hom2);
                            } else if (g0.isHom() && g1.isHom()) {
                                watch(exampleOut, ctx0, ctx1, g0, g1, sampleName, sampleInfo,
                                        Category.called_but_discordant_hom1_hom2);
                            } else if (g0.isHet() && g1.isHet()) {
                                watch(exampleOut, ctx0, ctx1, g0, g1, sampleName, sampleInfo,
                                        Category.called_but_discordant_het1_het2);
                            } else {
                                watch(exampleOut, ctx0, ctx1, g0, g1, sampleName, sampleInfo,
                                        Category.called_but_discordant_others);
                            }
                        }

                    }
                }
            }
            progress.finish();

            pw = openFileOrStdoutAsPrintStream();
            pw.print("#Sample");
            for (Category c : Category.values()) {
                pw.print('\t');
                pw.print(c.name());
            }
            pw.println();
            for (String sample : sample2info.keySet()) {
                Counter<Category> count = sample2info.get(sample);
                pw.print(sample);
                for (Category c : Category.values()) {
                    pw.print('\t');
                    pw.print(count.count(c));
                }
                pw.println();
                if (pw.checkError())
                    break;
            }
            pw.flush();

            if (exampleOut != null) {
                exampleOut.writeEndElement();
                exampleOut.writeEndDocument();
                exampleOut.flush();
                exampleOut.close();
            }
            return RETURN_OK;
        } catch (Exception err) {
            return wrapException(err);
        } finally {
            if (getOutputFile() != null)
                CloserUtil.close(pw);
            CloserUtil.close(exampleWriter);
        }

    }

    public static void main(String[] args) {
        new VcfCompareCallers().instanceMainWithExit(args);
    }
}