Examples with SkatExecutor com.github.lindenb.jvarkit.tools.skat.SkatFactory.SkatExecutor used on opensource projects

Example 1 with SkatExecutor

use of com.github.lindenb.jvarkit.tools.skat.SkatFactory.SkatExecutor in project jvarkit by lindenb.

the class VcfGeneEpistasis method doWork.

@Override
public int doWork(final List<String> args) {
    if (this.geneBed == null) {
        LOG.error("gene file bed undefined");
        return -1;
    }
    if (this.outputFile == null) {
        LOG.error("output file undefined");
        return -1;
    }
    CloseableIterator<VariantContext> iter = null;
    try {
        final File vcfFile = new File(oneAndOnlyOneFile(args));
        this.vcfFileReader = new VCFFileReader(vcfFile, true);
        final VCFHeader header = this.vcfFileReader.getFileHeader();
        final Pedigree pedigree;
        if (this.pedigreeFile != null) {
            pedigree = new Pedigree.Parser().parse(this.pedigreeFile);
        } else {
            pedigree = new Pedigree.Parser().parse(header);
        }
        if (pedigree == null || pedigree.isEmpty() || !pedigree.hasAffected() || !pedigree.hasUnaffected()) {
            LOG.error("empty ped or no case/ctrl");
            return -1;
        }
        pedigree.verifyPersonsHaveUniqueNames();
        for (final Pedigree.Person p : pedigree.getPersons().stream().filter(P -> P.isAffected() || P.isUnaffected()).filter(P -> header.getSampleNamesInOrder().contains(P.getId())).collect(Collectors.toSet())) {
            this.id2samples.put(p.getId(), p);
        }
        this.vcfTools = new VcfTools(header);
        List<Interval> geneList;
        if (!this.geneBed.exists()) {
            final Map<String, Interval> gene2interval = new HashMap<>(50000);
            LOG.info("building gene file" + this.geneBed);
            iter = this.vcfFileReader.iterator();
            // iter = this.vcfFileReader.query("chr3",1,300_000_000);
            final SAMSequenceDictionaryProgress progress = new SAMSequenceDictionaryProgress(header).logger(LOG);
            while (iter.hasNext()) {
                final VariantContext ctx = progress.watch(iter.next());
                if (!accept(ctx))
                    continue;
                for (final String geneName : getGenes(ctx)) {
                    final Interval old = gene2interval.get(geneName);
                    if (old == null) {
                        gene2interval.put(geneName, new Interval(ctx.getContig(), ctx.getStart(), ctx.getEnd(), false, geneName));
                        LOG.info("adding " + geneName + ". number of genes: " + gene2interval.size());
                    } else if (!old.getContig().equals(ctx.getContig())) {
                        LOG.error("boum :" + geneName + ": on chrom " + ctx.getContig() + " vs " + old);
                        return -1;
                    } else {
                        gene2interval.put(geneName, new Interval(ctx.getContig(), Math.min(ctx.getStart(), old.getStart()), Math.max(ctx.getEnd(), old.getEnd()), false, geneName));
                    }
                }
            }
            iter.close();
            iter = null;
            progress.finish();
            geneList = new ArrayList<>(gene2interval.values());
            PrintWriter pw = new PrintWriter(this.geneBed);
            for (final Interval g : geneList) {
                pw.println(g.getContig() + "\t" + (g.getStart() - 1) + "\t" + (g.getEnd()) + "\t" + g.getName());
            }
            pw.flush();
            pw.close();
            pw = null;
        } else {
            BedLineCodec codec = new BedLineCodec();
            BufferedReader r = IOUtil.openFileForBufferedReading(geneBed);
            geneList = r.lines().map(L -> codec.decode(L)).filter(B -> B != null).map(B -> new Interval(B.getContig(), B.getStart(), B.getEnd(), true, B.get(3))).collect(Collectors.toList());
            r.close();
        }
        if (geneList.isEmpty()) {
            LOG.error("gene List is empty");
            return -1;
        }
        final Comparator<VariantContext> ctxSorter = VCFUtils.createTidPosRefComparator(header.getSequenceDictionary());
        final Function<Interval, List<VariantContext>> loadVariants = (R) -> {
            List<VariantContext> L = new ArrayList<>();
            CloseableIterator<VariantContext> r = this.vcfFileReader.query(R.getContig(), R.getStart(), R.getEnd());
            while (r.hasNext()) {
                final VariantContext ctx = r.next();
                if (!accept(ctx))
                    continue;
                if (!getGenes(ctx).contains(R.getName()))
                    continue;
                L.add(ctx);
            }
            r.close();
            return L;
        };
        final SkatExecutor executor = this.skatFactory.build();
        Double bestSkat = null;
        LOG.info("number of genes : " + geneList.size());
        final int list_end_index = (this.user_end_index < 0 ? geneList.size() : Math.min(geneList.size(), this.user_end_index));
        for (int x = this.user_begin_index; x < list_end_index; ++x) {
            final Interval intervalx = geneList.get(x);
            final List<VariantContext> variantsx = loadVariants.apply(intervalx);
            if (variantsx.isEmpty())
                continue;
            for (int y = x; y < geneList.size(); /* pas list_end_index */
            ++y) {
                final Interval intervaly;
                final List<VariantContext> merge;
                if (y == x) {
                    // we-re testing gene 1 only
                    intervaly = intervalx;
                    merge = variantsx;
                } else {
                    intervaly = geneList.get(y);
                    if (intervaly.intersects(intervalx))
                        continue;
                    final List<VariantContext> variantsy = loadVariants.apply(intervaly);
                    if (variantsy.isEmpty())
                        continue;
                    merge = new MergedList<>(variantsx, variantsy);
                }
                LOG.info("testing : [" + x + "]" + intervalx + " [" + y + "]" + intervaly + " N:" + geneList.size() + " best: " + bestSkat);
                final Double skat = eval(executor, merge);
                if (skat == null)
                    continue;
                if (bestSkat == null || skat.compareTo(bestSkat) < 0) {
                    bestSkat = skat;
                    LOG.info("best " + bestSkat + " " + intervalx + " " + intervaly);
                    if (this.outputFile.getName().endsWith(".vcf") || this.outputFile.getName().endsWith(".vcf.gz")) {
                        final VCFHeader header2 = new VCFHeader(header);
                        header2.addMetaDataLine(new VCFHeaderLine(VcfGeneEpistasis.class.getName(), intervalx.getName() + " " + intervaly.getName() + " " + bestSkat));
                        final VariantContextWriter w = VCFUtils.createVariantContextWriter(outputFile);
                        w.writeHeader(header2);
                        merge.stream().sorted(ctxSorter).forEach(V -> w.add(V));
                        w.close();
                    } else {
                        final PrintWriter w = super.openFileOrStdoutAsPrintWriter(outputFile);
                        w.println(String.valueOf(bestSkat) + "\t" + intervalx.getName() + "\t" + intervaly.getName());
                        w.flush();
                        w.close();
                    }
                }
            }
        }
        return 0;
    } catch (final Exception err) {
        LOG.error(err);
        return -1;
    } finally {
        CloserUtil.close(iter);
        CloserUtil.close(this.vcfFileReader);
    }
}