Examples with Pedigree com.github.lindenb.jvarkit.pedigree.Pedigree used on opensource projects

Example 6 with Pedigree

use of com.github.lindenb.jvarkit.pedigree.Pedigree in project jvarkit by lindenb.

the class VCFFamilies method doVcfToVcf.

@Override
public int doVcfToVcf(final String inputName, VCFIterator r, final VariantContextWriter w) {
    final VCFHeader header = r.getHeader();
    final Pedigree pedigree;
    try {
        pedigree = new PedigreeParser().parse(this.pedigreeFile);
    } catch (final Throwable err) {
        throw new RuntimeIOException(err);
    }
    if (pedigree == null || pedigree.isEmpty()) {
        throw new RuntimeIOException("Pedigree null/empty");
    }
    final VCFHeader h2 = new VCFHeader(header);
    final Map<String, FamilyInfo> famidToFamilyInfo = new HashMap<>();
    pedigree.getSamplesInVcfHeader(header).forEach(P -> {
        final Family pedFamily = P.getFamily();
        FamilyInfo finfo = famidToFamilyInfo.get(pedFamily.getId());
        if (finfo == null) {
            finfo = new FamilyInfo(pedFamily);
            famidToFamilyInfo.put(pedFamily.getId(), finfo);
        }
        finfo.samples.add(P.getId());
    });
    famidToFamilyInfo.values().stream().flatMap(F -> F.getMetaDataLines().stream()).forEach(H -> h2.addMetaDataLine(H));
    JVarkitVersion.getInstance().addMetaData(this, h2);
    w.writeHeader(h2);
    while (r.hasNext()) {
        final VariantContext ctx = r.next();
        final VariantContextBuilder vcb = new VariantContextBuilder(ctx);
        final List<Allele> alts = ctx.getAlternateAlleles();
        famidToFamilyInfo.values().forEach(F -> F.visit(vcb, ctx, alts));
        w.add(vcb.make());
    }
    w.close();
    return 0;
}

Example 7 with Pedigree

use of com.github.lindenb.jvarkit.pedigree.Pedigree in project jvarkit by lindenb.

the class VCFTrios method doVcfToVcf.

@Override
public int doVcfToVcf(final String inputName, VCFIterator r, final VariantContextWriter w) {
    long count_incompats = 0L;
    final Set<String> sampleNotFoundInVcf = new HashSet<>();
    Pedigree pedigree = null;
    final List<TrioTriple> trios = new ArrayList<>();
    try {
        final DeNovoDetector detector = new DeNovoDetector();
        detector.setConvertingNoCallToHomRef(this.nocall_to_homref);
        final VCFHeader header = r.getHeader();
        final PedigreeParser pedParser = new PedigreeParser();
        pedigree = pedParser.parse(this.pedigreeFile);
        final VCFHeader h2 = new VCFHeader(header);
        final Set<VCFHeaderLine> meta = new HashSet<>();
        meta.add(new VCFInfoHeaderLine(this.attributeName, VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.String, "Samples with mendelian incompatibilities." + (this.pedigreeFile == null ? "" : " Pedigree File was : " + this.pedigreeFile)));
        meta.add(VCFStandardHeaderLines.getFormatLine(VCFConstants.GENOTYPE_FILTER_KEY, true));
        if (!StringUtil.isBlank(this.filterAnyIncompat)) {
            meta.add(new VCFFilterHeaderLine(this.filterAnyIncompat, "Variant contains at least one mendelian incompatibilities"));
        }
        if (!StringUtil.isBlank(this.filterNoIncompat)) {
            meta.add(new VCFFilterHeaderLine(this.filterNoIncompat, "Variant does not contain any mendelian incompatibilities"));
        }
        meta.stream().forEach(H -> h2.addMetaDataLine(H));
        JVarkitVersion.getInstance().addMetaData(this, h2);
        for (final Trio pedTrio : pedigree.getTrios()) {
            final TrioTriple trio = new TrioTriple();
            final Sample child = pedTrio.getChild();
            trio.child_id = header.getSampleNameToOffset().getOrDefault(child.getId(), -1);
            if (trio.child_id < 0)
                continue;
            if (pedTrio.hasFather()) {
                final Sample parent = pedTrio.getFather();
                trio.father_id = header.getSampleNameToOffset().getOrDefault(parent.getId(), -1);
            }
            if (pedTrio.hasMother()) {
                final Sample parent = pedTrio.getMother();
                trio.mother_id = header.getSampleNameToOffset().getOrDefault(parent.getId(), -1);
            }
            if (trio.father_id == -1 && trio.mother_id == -1) {
                continue;
            }
            trios.add(trio);
        }
        LOG.info("trios(s) in pedigree: " + trios.size());
        final ProgressFactory.Watcher<VariantContext> progress = ProgressFactory.newInstance().dictionary(header).logger(LOG).build();
        w.writeHeader(h2);
        while (r.hasNext()) {
            final VariantContext ctx = progress.apply(r.next());
            final Set<String> incompatibilities = new HashSet<String>();
            for (final TrioTriple trio : trios) {
                final Genotype gChild = ctx.getGenotype(trio.child_id);
                if (gChild == null)
                    throw new IllegalStateException();
                final Genotype gFather = trio.father_id < 0 ? null : ctx.getGenotype(trio.father_id);
                final Genotype gMother = trio.mother_id < 0 ? null : ctx.getGenotype(trio.mother_id);
                final DeNovoDetector.DeNovoMutation mut = detector.test(ctx, gFather, gMother, gChild);
                if (mut != null) {
                    incompatibilities.add(gChild.getSampleName());
                }
            }
            final VariantContextBuilder vcb = new VariantContextBuilder(ctx);
            if (!incompatibilities.isEmpty()) {
                // set filter for samples that are not a mendelian violation
                if (!StringUtil.isBlank(this.genotypeFilterNameNoIncompat)) {
                    vcb.genotypes(ctx.getGenotypes().stream().map(G -> incompatibilities.contains(G.getSampleName()) ? G : new GenotypeBuilder(G).filters(this.genotypeFilterNameNoIncompat).make()).collect(Collectors.toList()));
                }
                ++count_incompats;
                // set INFO attribute
                vcb.attribute(attributeName, incompatibilities.toArray());
                // set FILTER
                if (!StringUtil.isBlank(this.filterAnyIncompat)) {
                    vcb.filter(this.filterAnyIncompat);
                } else if (!ctx.isFiltered()) {
                    vcb.passFilters();
                }
            } else // No denovo
            {
                // dicard variant
                if (this.discard_variants_without_mendelian_incompat) {
                    continue;
                }
                // set filters
                if (!StringUtil.isBlank(this.filterNoIncompat)) {
                    vcb.filter(this.filterNoIncompat);
                } else if (!ctx.isFiltered()) {
                    vcb.passFilters();
                }
            }
            w.add(vcb.make());
        }
        progress.close();
        LOG.info("incompatibilitie(s) N=" + count_incompats);
        if (!sampleNotFoundInVcf.isEmpty()) {
            LOG.info("SAMPLE(S) not found: " + String.join(" / ", sampleNotFoundInVcf));
        }
        return 0;
    } catch (final Throwable err) {
        LOG.error(err);
        return -1;
    }
}

Example 8 with Pedigree

use of com.github.lindenb.jvarkit.pedigree.Pedigree in project jvarkit by lindenb.

the class SwingVcfView method doWork.

@Override
public int doWork(final List<String> args) {
    try {
        final List<Path> all_vcf_paths = new ArrayList<>(IOUtils.unrollPaths(args));
        if (all_vcf_paths.isEmpty()) {
            final JFileChooser jfc = new JFileChooser();
            jfc.setMultiSelectionEnabled(true);
            jfc.setFileFilter(new FileFilter() {

                @Override
                public String getDescription() {
                    return "Indexed Variant File";
                }

                @Override
                public boolean accept(final File f) {
                    if (f.isDirectory())
                        return true;
                    if (!f.canRead())
                        return false;
                    if (FileExtensions.VCF_LIST.stream().noneMatch(X -> f.getName().endsWith(X)))
                        return false;
                    return true;
                }
            });
            if (jfc.showOpenDialog(null) != JFileChooser.APPROVE_OPTION)
                return -1;
            final File[] sel = jfc.getSelectedFiles();
            if (sel == null || sel.length == 0)
                return -1;
            Arrays.asList(sel).stream().map(F -> F.toPath()).forEach(P -> all_vcf_paths.add(P));
        }
        for (final Path path : all_vcf_paths) {
            IOUtil.assertFileIsReadable(path);
        }
        /**
         * create VCF if needed
         */
        for (final Path path : all_vcf_paths) {
            try {
                ActionIndexVcf.indexVcf(path, false);
            } catch (IOException err) {
                ThrowablePane.show(null, err);
                return -1;
            }
        }
        final Pedigree ped;
        if (this.pedigreePath != null) {
            ped = new PedigreeParser().parse(this.pedigreePath);
        } else {
            ped = null;
        }
        JFrame.setDefaultLookAndFeelDecorated(true);
        final Dimension screen = Toolkit.getDefaultToolkit().getScreenSize();
        SwingUtilities.invokeAndWait(() -> {
            int dx = 0;
            for (final Path vcfPath : all_vcf_paths) {
                final XFrame frame = new XFrame(vcfPath, defaultRegion, this.limit_number_variant, ped, this.gffPath);
                frame.setBounds(50 + dx, 50 + dx, screen.width - 100, screen.height - 100);
                frame.setVisible(true);
                dx += 2;
            }
        });
        return 0;
    } catch (final Throwable err) {
        LOG.error(err);
        return -1;
    }
}

Example 9 with Pedigree

use of com.github.lindenb.jvarkit.pedigree.Pedigree in project jvarkit by lindenb.

the class VcfBurdenFisherH method doVcfToVcf.

@Override
protected int doVcfToVcf(final String inputName, final VCFIterator r, final VariantContextWriter w) {
    final PrintWriter report;
    if (this.bedExportPath == null) {
        report = new PrintWriter(new NullOuputStream());
    } else {
        report = new PrintWriter(IOUtil.openFileForBufferedUtf8Writing(this.bedExportPath));
    }
    final VCFHeader header = r.getHeader();
    final VCFHeader h2 = new VCFHeader(header);
    final Pedigree pedigree;
    try {
        pedigree = new PedigreeParser().parse(this.pedigreeFile);
    } catch (final IOException error) {
        throw new RuntimeIOException(error);
    }
    final Set<Sample> individualSet = pedigree.getSamplesInVcfHeader(header).filter(S -> S.isStatusSet()).collect(Collectors.toSet());
    if (individualSet.isEmpty())
        throw new IllegalArgumentException("No overlapping samples between header and pedigree.");
    final VCFInfoHeaderLine fisherAlleleInfoHeader = new VCFInfoHeaderLine(this.burdenHFisherTag, VCFHeaderLineCount.A, VCFHeaderLineType.Float, "Fisher Exact Test Case/Control.");
    final VCFFilterHeaderLine variantFilterHeader;
    if (StringUtils.isBlank(this.softFilterName)) {
        variantFilterHeader = null;
    } else {
        variantFilterHeader = new VCFFilterHeaderLine(this.softFilterName, "Fisher case:control vs miss|have ALT not between " + this.min_fisher + " and " + this.max_fisher);
        h2.addMetaDataLine(variantFilterHeader);
    }
    final VCFFilterHeaderLine filterCtrlgtCaseRatio;
    if (StringUtils.isBlank(this.filterCtrlgtCaseRatioStr)) {
        filterCtrlgtCaseRatio = null;
    } else {
        filterCtrlgtCaseRatio = new VCFFilterHeaderLine(this.filterCtrlgtCaseRatioStr, "The number of CONTROLS carrying the ALT allele is creater than the number of CASES carrying the ALT allele.");
        h2.addMetaDataLine(filterCtrlgtCaseRatio);
    }
    final VCFInfoHeaderLine fisherDetailInfoHeader = new VCFInfoHeaderLine(this.burdenHFisherTag + "Detail", VCFHeaderLineCount.A, VCFHeaderLineType.String, "Fisher Exact Test Case/Control");
    h2.addMetaDataLine(fisherAlleleInfoHeader);
    h2.addMetaDataLine(fisherDetailInfoHeader);
    JVarkitVersion.getInstance().addMetaData(this, h2);
    w.writeHeader(h2);
    while (r.hasNext()) {
        final VariantContext ctx = r.next();
        final VariantContextBuilder vcb = new VariantContextBuilder(ctx);
        if (this.overwrite_qual)
            vcb.log10PError(VariantContext.NO_LOG10_PERROR);
        vcb.rmAttribute(fisherAlleleInfoHeader.getID());
        vcb.rmAttribute(fisherDetailInfoHeader.getID());
        final Set<String> oldFilters = new HashSet<>(ctx.getFilters());
        if (variantFilterHeader != null)
            oldFilters.remove(variantFilterHeader.getID());
        if (filterCtrlgtCaseRatio != null)
            oldFilters.remove(filterCtrlgtCaseRatio.getID());
        if (this.ignoreFiltered && ctx.isFiltered()) {
            w.add(vcb.make());
            continue;
        }
        boolean set_filter_in_range = true;
        boolean set_filter_case_ctrl_ratio = true;
        boolean found_one_alt = false;
        final List<String> infoData = new ArrayList<>(ctx.getAlleles().size());
        final List<Double> fisherValues = new ArrayList<>(ctx.getAlleles().size());
        for (final Allele observed_alt : ctx.getAlternateAlleles()) {
            if (observed_alt.isNoCall()) {
                infoData.add(String.join("|", "ALLELE", String.valueOf(observed_alt.getDisplayString()), "FISHER", "1.0"));
                fisherValues.add(1.0);
                continue;
            }
            /* count for fisher allele */
            int count_case_have_alt = 0;
            int count_case_miss_alt = 0;
            int count_ctrl_have_alt = 0;
            int count_ctrl_miss_alt = 0;
            /* loop over persons in this pop */
            for (final Sample p : individualSet) {
                /* get genotype for this individual */
                final Genotype genotype = ctx.getGenotype(p.getId());
                /* individual is not in vcf header */
                if (genotype == null || !genotype.isCalled() || (this.ignore_filtered_genotype && genotype.isFiltered())) {
                    if (genotype == null)
                        LOG.warn("Genotype is null for sample " + p.getId() + " not is pedigree!");
                    // no information , we consider that sample was called AND HOM REF
                    if (p.isAffected()) {
                        count_case_miss_alt++;
                    } else {
                        count_ctrl_miss_alt++;
                    }
                    continue;
                }
                /* loop over alleles */
                final boolean genotype_contains_allele = genotype.getAlleles().stream().anyMatch(A -> A.equals(observed_alt));
                /* fisher */
                if (genotype_contains_allele) {
                    if (p.isAffected()) {
                        count_case_have_alt++;
                        ;
                    } else {
                        count_ctrl_have_alt++;
                    }
                } else {
                    if (p.isAffected()) {
                        count_case_miss_alt++;
                    } else {
                        count_ctrl_miss_alt++;
                    }
                }
            }
            /* end of loop over persons */
            /* fisher test for alleles */
            final FisherExactTest fisherAlt = FisherExactTest.compute(count_case_have_alt, count_case_miss_alt, count_ctrl_have_alt, count_ctrl_miss_alt);
            fisherValues.add(fisherAlt.getAsDouble());
            infoData.add(String.join("|", "ALLELE", String.valueOf(observed_alt.getDisplayString()), "FISHER", String.valueOf(fisherAlt.getAsDouble()), "CASE_HAVE_ALT", String.valueOf(count_case_have_alt), "CASE_MISS_ALT", String.valueOf(count_case_miss_alt), "CTRL_HAVE_ALT", String.valueOf(count_ctrl_have_alt), "CTRL_MISS_ALT", String.valueOf(count_ctrl_miss_alt)));
            found_one_alt = true;
            final boolean is_in_range = this.min_fisher <= fisherAlt.getAsDouble() && fisherAlt.getAsDouble() <= this.max_fisher;
            final int total_ctrls = count_ctrl_have_alt + count_ctrl_miss_alt;
            final int total_cases = count_case_have_alt + count_case_miss_alt;
            // check ratio case/control
            if (total_ctrls > 0 && total_cases > 0 && (count_case_have_alt / (double) total_cases) >= (count_ctrl_have_alt / (double) total_ctrls)) {
                set_filter_case_ctrl_ratio = false;
            }
            if (is_in_range) {
                set_filter_in_range = false;
            }
            if (this.bedExportPath != null && is_in_range) {
                report.print(ctx.getContig());
                report.print('\t');
                report.print(ctx.getStart() - 1);
                report.print('\t');
                report.print(ctx.getEnd());
                report.print('\t');
                report.print(ctx.getReference().getDisplayString());
                report.print('\t');
                report.print(observed_alt.getDisplayString());
                report.print('\t');
                report.print(fisherAlt.getAsDouble());
                report.print('\t');
                report.print(count_case_have_alt);
                report.print('\t');
                report.print(count_case_miss_alt);
                report.print('\t');
                report.print(count_ctrl_have_alt);
                report.print('\t');
                report.print(count_ctrl_miss_alt);
                report.println();
            }
        }
        // better than nothing, otherwise i'll mess with the filters
        if (!found_one_alt) {
            w.add(vcb.make());
            continue;
        }
        // soft filter, skip variant
        if ((set_filter_in_range && variantFilterHeader == null) || (set_filter_case_ctrl_ratio && filterCtrlgtCaseRatio == null))
            // skip variant
            continue;
        vcb.attribute(fisherAlleleInfoHeader.getID(), fisherValues);
        vcb.attribute(fisherDetailInfoHeader.getID(), infoData);
        if (this.overwrite_qual) {
            final OptionalDouble minV = fisherValues.stream().mapToDouble(V -> V.doubleValue()).min();
            if (minV.isPresent())
                vcb.log10PError(Math.max(1.0E-100, /* arbitrary */
                minV.getAsDouble()) / -10);
        }
        if (set_filter_in_range && variantFilterHeader != null) {
            vcb.filter(variantFilterHeader.getID());
            // only set this one if the filter is set above
            if (set_filter_case_ctrl_ratio && filterCtrlgtCaseRatio != null) {
                vcb.filter(filterCtrlgtCaseRatio.getID());
            }
        }
        w.add(vcb.make());
    }
    w.close();
    report.flush();
    report.close();
    return 0;
}

Example 10 with Pedigree

use of com.github.lindenb.jvarkit.pedigree.Pedigree in project jvarkit by lindenb.

the class VcfStretchOfGt method doWork.

@Override
public int doWork(final List<String> args) {
    VCFIterator iter = null;
    PrintWriter w = null;
    try {
        iter = super.openVCFIterator(oneFileOrNull(args));
        final VCFHeader header = iter.getHeader();
        if (!header.hasGenotypingData()) {
            LOG.error("No genotype in input");
            return -1;
        }
        final Set<String> vcf_samples = new HashSet<>(header.getSampleNamesInOrder());
        final List<SampleSet> all_sample_set = new ArrayList<>();
        if (!StringUtils.isBlank(this.affectedStr)) {
            final Set<String> affected = Arrays.stream(this.affectedStr.split("[ ,;]+")).filter(S -> !StringUtils.isBlank(S)).filter(S -> vcf_samples.contains(S)).collect(Collectors.toSet());
            if (affected.isEmpty()) {
                LOG.error("No affected sample in string " + this.affectedStr);
                return -1;
            }
            /* at least 2 because singleton sample are created later */
            if (affected.size() > 1) {
                all_sample_set.add(new SampleSet(vcf_samples, affected));
            }
        }
        if (this.pedigreePath != null) {
            final Pedigree pedigree = new PedigreeParser().parse(this.pedigreePath);
            final Set<String> affected = pedigree.getAffectedSamples().stream().map(P -> P.getId()).filter(ID -> header.getSampleNameToOffset().containsKey(ID)).collect(Collectors.toSet());
            if (affected.isEmpty()) {
                LOG.error("No affected sample in pedigree " + this.pedigreePath);
                return -1;
            }
            /* at least 2 because singleton sample are created later */
            if (affected.size() > 1) {
                all_sample_set.add(new SampleSet(vcf_samples, affected));
            }
        }
        /* singletons */
        for (final String sn : vcf_samples) {
            final SampleSet sampleSet = new SampleSet(vcf_samples, Collections.singleton(sn));
            all_sample_set.add(sampleSet);
        }
        w = super.openPathOrStdoutAsPrintWriter(this.outputFile);
        w.print("#chrom");
        w.print('\t');
        w.print("start0");
        w.print('\t');
        w.print("end0");
        w.print('\t');
        w.print("length");
        w.print('\t');
        w.print("samples");
        w.print('\t');
        w.print("count.affected.variants");
        w.print('\t');
        w.print("average.affected.depth");
        w.print('\t');
        w.print("count.other.variants");
        w.println();
        final ProgressFactory.Watcher<VariantContext> progress = ProgressFactory.newInstance().dictionary(header).logger(LOG).build();
        while (iter.hasNext()) {
            final VariantContext ctx = progress.apply(iter.next());
            for (final SampleSet snSet : all_sample_set) snSet.visit(w, ctx);
        }
        for (final SampleSet snSet : all_sample_set) snSet.dump(w);
        w.flush();
        w.close();
        w = null;
        iter.close();
        iter = null;
        progress.close();
        return 0;
    } catch (final Throwable err) {
        LOG.error(err);
        return -1;
    } finally {
        CloserUtil.close(iter);
        CloserUtil.close(w);
    }
}