@Requires({"eval != null", "comp != null"})
private EvalCompMatchType doEvalAndCompMatch(
final VariantContext eval, final VariantContext comp, boolean requireStrictAlleleMatch) {
if (comp.getType() == VariantContext.Type.NO_VARIATION
|| eval.getType() == VariantContext.Type.NO_VARIATION)
// if either of these are NO_VARIATION they are LENIENT matches
return EvalCompMatchType.LENIENT;
if (comp.getType() != eval.getType()) return EvalCompMatchType.NO_MATCH;
// find the comp which matches both the reference allele and alternate allele from eval
final Allele altEval =
eval.getAlternateAlleles().size() == 0 ? null : eval.getAlternateAllele(0);
final Allele altComp =
comp.getAlternateAlleles().size() == 0 ? null : comp.getAlternateAllele(0);
if ((altEval == null && altComp == null)
|| (altEval != null
&& altEval.equals(altComp)
&& eval.getReference().equals(comp.getReference()))) return EvalCompMatchType.STRICT;
else return requireStrictAlleleMatch ? EvalCompMatchType.NO_MATCH : EvalCompMatchType.LENIENT;
}
@DataProvider(name = "UsingAD")
public Object[][] makeUsingADData() {
List<Object[]> tests = new ArrayList<>();
final Allele A = Allele.create("A", true);
final Allele C = Allele.create("C");
final Allele G = Allele.create("G");
final List<Allele> AA = Arrays.asList(A, A);
final List<Allele> AC = Arrays.asList(A, C);
final List<Allele> GG = Arrays.asList(G, G);
final List<Allele> ACG = Arrays.asList(A, C, G);
final Genotype gAC = new GenotypeBuilder("1", AC).DP(10).AD(new int[] {5, 5}).make();
final Genotype gAA = new GenotypeBuilder("2", AA).DP(10).AD(new int[] {10, 0}).make();
final Genotype gACerror = new GenotypeBuilder("3", AC).DP(10).AD(new int[] {9, 1}).make();
final Genotype gGG = new GenotypeBuilder("4", GG).DP(10).AD(new int[] {1, 9}).make();
tests.add(
new Object[] {
new VariantContextBuilder("test", "20", 10, 10, AC)
.log10PError(-5)
.genotypes(Arrays.asList(gAC))
.make(),
5.0
});
tests.add(
new Object[] {
new VariantContextBuilder("test", "20", 10, 10, AC)
.log10PError(-5)
.genotypes(Arrays.asList(gACerror))
.make(),
5.0
});
tests.add(
new Object[] {
new VariantContextBuilder("test", "20", 10, 10, AC)
.log10PError(-5)
.genotypes(Arrays.asList(gAA, gAC))
.make(),
5.0
});
tests.add(
new Object[] {
new VariantContextBuilder("test", "20", 10, 10, AC)
.log10PError(-5)
.genotypes(Arrays.asList(gAC, gACerror))
.make(),
5.0
});
tests.add(
new Object[] {
new VariantContextBuilder("test", "20", 10, 10, ACG)
.log10PError(-5)
.genotypes(Arrays.asList(gAA, gAC, gACerror, gGG))
.make(),
2.5
});
return tests.toArray(new Object[][] {});
}
private void read(InputStream in, String filename) throws IOException {
// Pattern comma=Pattern.compile("[,]");
Pattern pipe = Pattern.compile("[\\|]");
Pattern amp = Pattern.compile("&");
out.println("insert into FILE" + SUFFIX + "(filename) values (" + quote(filename) + ");");
VcfIterator r = new VcfIterator(in);
VCFHeader header = r.getHeader();
String csqColumns[] = null;
VCFInfoHeaderLine infoHeader = header.getInfoHeaderLine("CSQ");
if (infoHeader != null && this.USE_VEP) {
LOG.info("parsing VEP " + infoHeader.getDescription());
final String formatStr = "Format: ";
int i = infoHeader.getDescription().indexOf(formatStr);
if (i != -1) {
csqColumns =
pipe.split(infoHeader.getDescription().substring(i + formatStr.length()).trim());
LOG.debug(Arrays.asList(csqColumns));
} else {
LOG.error("Cannot parse " + infoHeader.getDescription());
}
}
String snpEffColumns[] = null;
infoHeader = header.getInfoHeaderLine("EFF");
if (infoHeader != null && this.USE_SNPEFF) {
LOG.info("parsing EFF " + infoHeader.getDescription());
final String formatStr = ".Format: '";
final String desc = infoHeader.getDescription();
int i = desc.indexOf(formatStr);
if (i != -1) i = desc.indexOf('(', i + formatStr.length());
int j = desc.lastIndexOf(')');
if (i != -1 && j > i) {
snpEffColumns =
pipe.split(desc.substring(i + 1, j).replaceAll("[ \\[\\]()\\.]", "").trim());
LOG.info(Arrays.asList(snpEffColumns));
} else {
LOG.error("Cannot parse " + infoHeader.getDescription());
}
}
String nmdColumns[] = null;
infoHeader = header.getInfoHeaderLine("NMD");
if (infoHeader != null && this.USE_SNPEFF) {
final String formatStr = " Format: '";
final String desc = infoHeader.getDescription();
int i = desc.indexOf(formatStr);
int j = (i == -1 ? -1 : desc.lastIndexOf('\''));
if (i != -1 && j > i) {
nmdColumns =
pipe.split(
desc.substring(i + formatStr.length(), j).replaceAll("[ \\[\\]()\\.]", "").trim());
} else {
LOG.error("Cannot parse " + infoHeader.getDescription());
}
}
String lofColumns[] = null;
infoHeader = header.getInfoHeaderLine("LOF");
if (infoHeader != null && this.USE_SNPEFF) {
final String formatStr = " Format: '";
final String desc = infoHeader.getDescription();
int i = desc.indexOf(formatStr);
int j = (i == -1 ? -1 : desc.lastIndexOf('\''));
if (i != -1 && j > i) {
lofColumns =
pipe.split(
desc.substring(i + formatStr.length(), j).replaceAll("[ \\[\\]()\\.]", "").trim());
} else {
LOG.error("Cannot parse " + infoHeader.getDescription());
}
}
for (String S : header.getSampleNamesInOrder()) {
// merge into SAMPLE using (select 1+MAX(id),'azdazd' from SAMPLE) as vals(x,y) on
// SAMPLE.name=vals.y when NOT MATCHED THEN INSERT VALUES vals.x,vals.y;
switch (this.engine) {
case hsql:
out.println(
"merge into SAMPLE"
+ SUFFIX
+ " using ( values("
+ quote(S)
+ ") ) "
+ "AS vals(y) ON SAMPLE"
+ SUFFIX
+ ".name = vals.y "
+ "WHEN NOT MATCHED THEN INSERT VALUES (NULL,vals.y);");
break;
default:
out.println(
"insert or ignore into SAMPLE" + SUFFIX + "(name) values (" + quote(S) + ");");
break;
}
}
List<String> headers = new ArrayList<String>();
for (VCFHeaderLine line : header.getMetaDataInSortedOrder()) {
if (VCFHeaderVersion.isFormatString(line.getKey())) continue;
headers.add(VCFHeader.METADATA_INDICATOR + line);
}
String chromLine = VCFHeader.HEADER_INDICATOR;
for (VCFHeader.HEADER_FIELDS field : header.getHeaderFields()) {
if (!VCFHeader.HEADER_INDICATOR.equals(chromLine))
chromLine += (VCFConstants.FIELD_SEPARATOR);
chromLine += (field);
}
if (header.hasGenotypingData()) {
chromLine += VCFConstants.FIELD_SEPARATOR + "FORMAT";
for (String sample : header.getGenotypeSamples()) {
chromLine += VCFConstants.FIELD_SEPARATOR;
chromLine += sample;
}
}
headers.add(chromLine);
for (String line : headers) {
out.println(
"insert into HEADER"
+ SUFFIX
+ "(file_id,header) values ("
+ "(select max(id) from FILE"
+ SUFFIX
+ "),"
+ quote(line)
+ ");");
}
while (r.hasNext()) {
VariantContext var = r.next();
if (var == null) {
LOG.error("Cannot parse VCF");
continue;
}
// "create table if not exists FILE(id,filename text)";
// "create table if not exists VARIATION(id,file_id,chrom,pos,start0,end0,rs_id,ref,qual)";
out.println(
"insert into VARIATION"
+ SUFFIX
+ "(file_id,chrom,pos,START0,END0,rs_id,ref,qual) values ("
+ "(select max(id) from FILE"
+ SUFFIX
+ "),"
+ quote(var.getChr())
+ ","
+ var.getStart()
+ ","
+ (var.getStart() - 1)
+ ","
+ var.getEnd()
+ ","
+ (var.getID() == null || var.getID().equals(VCFConstants.EMPTY_ID_FIELD)
? "NULL"
: quote(var.getID()))
+ ","
+ quote(var.getReference().getDisplayString())
+ ","
+ (var.getPhredScaledQual() < 0 ? "NULL" : var.getPhredScaledQual())
+ ");");
// "create table if not exists ALT(id,var_id,alt)";
for (Allele alt : var.getAlternateAlleles()) {
out.println(
"insert into ALT"
+ SUFFIX
+ "(var_id,alt) values ("
+ "(select max(id) from VARIATION"
+ SUFFIX
+ "),"
+ quote(alt.getDisplayString())
+ ");");
}
// "create table if not exists FILTER(id,var_id,filter)";
for (String filter : var.getFilters()) {
out.println(
"insert into FILTER"
+ SUFFIX
+ "(var_id,filter) values ("
+ "(select max(id) from VARIATION"
+ SUFFIX
+ "),"
+ quote(filter)
+ ");");
}
CommonInfo infos = var.getCommonInfo();
for (String key : infos.getAttributes().keySet()) {
Object val = infos.getAttribute(key);
// "create table if not exists INFO(id,var_id,k,v)";
if (SPLIT4 && key.equals("DP4")) {
String dp4[] = infotoString(val).split("[,]");
insertIntoInfo(quote(key + "[refFor]"), quote(dp4[0]));
insertIntoInfo(quote(key + "[refRev]"), quote(dp4[1]));
insertIntoInfo(quote(key + "[altFor]"), quote(dp4[2]));
insertIntoInfo(quote(key + "[altRev]"), quote(dp4[3]));
} else {
insertIntoInfo(quote(key), quote(infotoString(val)));
}
if (key.equals("CSQ") && csqColumns != null) {
List as_array = castToStringArray(val);
for (Object csqs : as_array) {
if (csqs.toString().isEmpty()) continue;
String tokens[] = pipe.split(csqs.toString());
List<String> extraInfo = new ArrayList<String>();
for (int t = 0; t < tokens.length && t < csqColumns.length; ++t) {
if (tokens[t].isEmpty()) continue;
if (csqColumns[t].equals("Consequence")) {
for (String pred : amp.split(tokens[t])) {
if (pred.isEmpty()) continue;
extraInfo.add(csqColumns[t]);
extraInfo.add(pred);
}
} else {
extraInfo.add(csqColumns[t]);
extraInfo.add(tokens[t]);
}
}
insertExtraInfos("CSQ", extraInfo);
}
}
if (key.equals("EFF") && snpEffColumns != null) {
for (Object item : castToStringArray(val)) {
String snpeff = item.toString();
if (snpeff.isEmpty()) continue;
int opar = snpeff.indexOf('(');
if (opar == -1) continue;
int cpar = snpeff.lastIndexOf(')');
if (cpar == -1) continue;
String tokens[] = pipe.split(snpeff.substring(opar + 1, cpar));
List<String> h = new ArrayList<String>();
h.add("Effect");
h.add(snpeff.substring(0, opar));
for (int t = 0; t < tokens.length && t < snpEffColumns.length; ++t) {
if (tokens[t].isEmpty()) continue;
h.add(snpEffColumns[t]);
h.add(tokens[t]);
}
insertExtraInfos(key, h);
}
}
if (key.equals("NMD") && nmdColumns != null) {
for (Object item : castToStringArray(val)) {
String nmd = item.toString();
if (nmd.isEmpty()) continue;
String tokens[] = pipe.split(nmd);
List<String> h = new ArrayList<String>(nmdColumns.length * 2);
for (int t = 0; t < tokens.length && t < nmdColumns.length; ++t) {
if (tokens[t].isEmpty()) continue;
h.add(nmdColumns[t]);
h.add(tokens[t]);
}
insertExtraInfos(key, h);
}
}
if (key.equals("LOF") && lofColumns != null) {
for (Object item : castToStringArray(val)) {
String lof = item.toString();
if (lof.isEmpty()) continue;
String tokens[] = pipe.split(lof);
List<String> h = new ArrayList<String>(lofColumns.length * 2);
for (int t = 0; t < tokens.length && t < lofColumns.length; ++t) {
if (tokens[t].isEmpty()) continue;
h.add(lofColumns[t]);
h.add(tokens[t]);
}
insertExtraInfos(key, h);
}
}
}
GenotypesContext genotypesCtx = var.getGenotypes();
for (Genotype g : genotypesCtx) {
// "create table if not exists GENOTYPE(id,var_id,k,v)";
List<Allele> alleles = g.getAlleles();
out.println(
"insert into GENOTYPE"
+ SUFFIX
+ "(var_id,sample_id,A1,A2,dp,ad,gq,pl,"
+ "is_phased,is_hom,is_homref,is_homvar,is_mixed,"
+ "is_nocall,is_noninformative,is_available,is_called,is_filtered"
+ ") values ("
+ "(select max(id) from VARIATION"
+ SUFFIX
+ "),"
+ "(select id from SAMPLE"
+ SUFFIX
+ " where name="
+ quote(g.getSampleName())
+ "),"
+ (alleles.size() == 2 ? quote(alleles.get(0).getBaseString()) : "NULL")
+ ","
+ (alleles.size() == 2 ? quote(alleles.get(1).getBaseString()) : "NULL")
+ ","
+ (g.hasDP() ? g.getDP() : "NULL")
+ ","
+ (g.hasAD() ? quote(infotoString(g.getAD())) : "NULL")
+ ","
+ (g.hasGQ() ? g.getGQ() : "NULL")
+ ","
+ (g.hasPL() ? quote(infotoString(g.getPL())) : "NULL")
+ ","
+ (g.isPhased() ? 1 : 0)
+ ","
+ (g.isHom() ? 1 : 0)
+ ","
+ (g.isHomRef() ? 1 : 0)
+ ","
+ (g.isHomVar() ? 1 : 0)
+ ","
+ (g.isMixed() ? 1 : 0)
+ ","
+ (g.isNoCall() ? 1 : 0)
+ ","
+ (g.isNonInformative() ? 1 : 0)
+ ","
+ (g.isAvailable() ? 1 : 0)
+ ","
+ (g.isCalled() ? 1 : 0)
+ ","
+ (g.isFiltered() ? 1 : 0)
+ ");");
for (String key : g.getExtendedAttributes().keySet()) {
Object val = g.getExtendedAttribute(key);
if (val == null) continue;
out.println(
"insert into GTPROP"
+ SUFFIX
+ "(genotype_id,k,v) values ("
+ "(select max(id) from GENOTYPE"
+ SUFFIX
+ "),"
+ quote(key)
+ ","
+ quote(infotoString(val))
+ ");");
}
}
}
r.close();
}