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do pooled calling properly for 1kg 

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@667 348d0f76-0448-11de-a6fe-93d51630548a
This commit is contained in:
jmaguire 2009-05-12 15:12:13 +00:00
parent 313a6d0fb5
commit c8d7223789
1 changed files with 60 additions and 23 deletions
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83
java/src/org/broadinstitute/sting/playground/gatk/walkers/PoolCaller.java
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@ -17,21 +17,36 @@ import org.broadinstitute.sting.utils.cmdLine.Argument;
import java.util.ArrayList; import java.util.ArrayList;
import java.util.List; import java.util.List;
import java.util.Random; import java.util.Random;
import java.io.*;
public class PoolCaller extends LocusWalker<AlleleFrequencyEstimate, String> public class PoolCaller extends LocusWalker<AlleleFrequencyEstimate, String>
{ {
List<SingleSampleGenotyper> callers = null; List<SingleSampleGenotyper> callers = null;
List<String> sample_names = null; List<String> sample_names = null;
//@Argument(required=false, shortName="log_metrics", defaultValue="true") public boolean LOG_METRICS; @Argument(required=false, shortName="fractional_counts", doc="should we use fractional counts?") public boolean FRACTIONAL_COUNTS = false;
@Argument(required=false, shortName="fractional_counts", doc="fractional counts") public boolean FRACTIONAL_COUNTS = false; @Argument(required=false, shortName="max_iterations", doc="Maximum number of iterations for EM") public int MAX_ITERATIONS = 10;
@Argument(fullName="lodThreshold", shortName="lod", required=false, doc="lod threshold for outputting individual genotypes") public Double lodThreshold = 2.0;
@Argument(fullName="discovery_output", shortName="discovery_output", required=true, doc="file to write SNP discovery output to") public String DISCOVERY_OUTPUT;
private Random random; private Random random;
private SAMFileHeader header; private SAMFileHeader header;
private PrintStream discovery_output_file;
public void initialize() public void initialize()
{ {
try
{
discovery_output_file = new PrintStream(DISCOVERY_OUTPUT);
}
catch (Exception e)
{
e.printStackTrace();
System.exit(-1);
}
GenomeAnalysisEngine toolkit = this.getToolkit(); GenomeAnalysisEngine toolkit = this.getToolkit();
this.header = toolkit.getEngine().getSAMHeader(); this.header = toolkit.getEngine().getSAMHeader();
List<SAMReadGroupRecord> read_groups = header.getReadGroups(); List<SAMReadGroupRecord> read_groups = header.getReadGroups();
@ -51,11 +66,11 @@ public class PoolCaller extends LocusWalker<AlleleFrequencyEstimate, String>
{ {
String sample_name = read_groups.get(i).getSample(); String sample_name = read_groups.get(i).getSample();
sample_names.add(sample_name); sample_names.add(sample_name);
//System.out.println("SAMPLE: " + sample_name); System.out.println("SAMPLE: " + sample_name);
SingleSampleGenotyper caller = new SingleSampleGenotyper(); SingleSampleGenotyper caller = new SingleSampleGenotyper();
caller.metricsFileName = "/dev/null"; caller.metricsFileName = "/dev/null";
caller.lodThreshold = 5.0; caller.lodThreshold = lodThreshold;
caller.fourBaseMode = false; caller.fourBaseMode = false;
caller.printMetrics = false; caller.printMetrics = false;
caller.initialize(); caller.initialize();
@ -65,6 +80,8 @@ public class PoolCaller extends LocusWalker<AlleleFrequencyEstimate, String>
public AlleleFrequencyEstimate map(RefMetaDataTracker tracker, char ref, LocusContext context) public AlleleFrequencyEstimate map(RefMetaDataTracker tracker, char ref, LocusContext context)
{ {
if (ref == 'N') { return null; }
// 1. seperate each context. // 1. seperate each context.
LocusContext[] contexts = new LocusContext[sample_names.size()]; LocusContext[] contexts = new LocusContext[sample_names.size()];
for (int i = 0; i < sample_names.size(); i++) for (int i = 0; i < sample_names.size(); i++)
@ -76,15 +93,18 @@ public class PoolCaller extends LocusWalker<AlleleFrequencyEstimate, String>
// EM Loop: // EM Loop:
AlleleFrequencyEstimate[] calls = null; AlleleFrequencyEstimate[] calls = null;
double EM_alt_freq = 0; double EM_alt_freq;
double EM_N = 0; double EM_N = 0;
// this line is kinda hacky
if (MAX_ITERATIONS == 1) { EM_alt_freq = -1; }
else { EM_alt_freq = 0.5; }
// (this loop is the EM cycle) // (this loop is the EM cycle)
EM_alt_freq = 0.5; double[] trajectory = new double[MAX_ITERATIONS + 1]; trajectory[0] = EM_alt_freq;
int num_iterations = 10; double[] likelihood_trajectory = new double[MAX_ITERATIONS + 1]; likelihood_trajectory[0] = 0.0;
double[] trajectory = new double[num_iterations + 1]; trajectory[0] = EM_alt_freq; boolean is_a_snp = false;
double[] likelihood_trajectory = new double[num_iterations + 1]; likelihood_trajectory[0] = 0.0; for (int iterations = 0; iterations < MAX_ITERATIONS; iterations++)
for (int iterations = 0; iterations < num_iterations; iterations++)
{ {
// 6. Re-call from shallow coverage using the estimated frequency as a prior, // 6. Re-call from shallow coverage using the estimated frequency as a prior,
// and compare to true deep calls, // and compare to true deep calls,
@ -93,6 +113,7 @@ public class PoolCaller extends LocusWalker<AlleleFrequencyEstimate, String>
EM_N = 0.0; EM_N = 0.0;
double EM_sum = 0.0; double EM_sum = 0.0;
double likelihood = 0.0; double likelihood = 0.0;
is_a_snp = false;
for (int i = 0; i < sample_names.size(); i++) for (int i = 0; i < sample_names.size(); i++)
{ {
@ -102,16 +123,15 @@ public class PoolCaller extends LocusWalker<AlleleFrequencyEstimate, String>
likelihood += calls[i].posterior(); likelihood += calls[i].posterior();
//System.out.printf("DBG: %f %f %f %f\n",
// deep_calls[i].lodVsNextBest,
// deep_calls[i].lodVsRef,
// shallow_calls[i].lodVsNextBest,
// shallow_calls[i].lodVsRef);
if (! FRACTIONAL_COUNTS) if (! FRACTIONAL_COUNTS)
{ {
EM_sum += calls[i].emperical_allele_frequency() * calls[i].N; //System.out.printf("DBG: %s %f %f\n",
EM_N += calls[i].N; // context.getLocation(),
// calls[i].lodVsNextBest,
// calls[i].lodVsRef);
EM_sum += calls[i].emperical_allele_frequency() * calls[i].N;
EM_N += calls[i].N;
} }
else else
{ {
@ -132,21 +152,33 @@ public class PoolCaller extends LocusWalker<AlleleFrequencyEstimate, String>
//System.out.printf("DBGTRAJ %f %f %f %f\n", EM_sum, EM_N, trajectory[iterations], trajectory[iterations+1]); //System.out.printf("DBGTRAJ %f %f %f %f\n", EM_sum, EM_N, trajectory[iterations], trajectory[iterations+1]);
} }
// 7. Output some statistics.
double discovery_posterior = 0;
double discovery_null = 0;
for (int i = 0; i < sample_names.size(); i++)
{
discovery_posterior += calls[i].pBest;
discovery_null += calls[i].pRef;
//System.out.printf("DBG %f %f %c %s\n", calls[i].pBest, calls[i].pRef, ref, calls[i].bases);
}
double discovery_lod = discovery_posterior - discovery_null;
discovery_output_file.printf("%s %f %f %f %f\n", context.getLocation(), EM_alt_freq, discovery_posterior, discovery_null, discovery_lod);
for (int i = 0; i < sample_names.size(); i++) for (int i = 0; i < sample_names.size(); i++)
{ {
ReadBackedPileup pileup = new ReadBackedPileup(ref, contexts[i]); ReadBackedPileup pileup = new ReadBackedPileup(ref, contexts[i]);
System.out.printf("CALL %s %s %f %f %s\n", sample_names.get(i), calls[i].genotype(), calls[i].lodVsRef, calls[i].lodVsNextBest, pileup.getBases()); if (calls[i].depth == 0) { continue; }
//if (calls[i].lodVsRef < lodThreshold) { continue; }
out.printf("%s %s %c %f %s %f %f %f %f %f %s\n", context.getLocation(), sample_names.get(i), ref, EM_alt_freq, calls[i].genotype(), calls[i].lodVsRef, calls[i].lodVsNextBest, calls[i].pBest, calls[i].pRef, discovery_lod, pileup.getBases());
} }
// 7. Compare to estimation from the pool. System.out.printf("EVAL %s\n", context.getLocation());
System.out.printf("EVAL %s %f\n",
context.getLocation(),
EM_alt_freq);
//for (int i = 0; i < likelihood_trajectory.length; i++) //for (int i = 0; i < likelihood_trajectory.length; i++)
//{ //{
// System.out.printf("TRAJECTORY %f %f\n", trajectory[i], likelihood_trajectory[i]); // System.out.printf("TRAJECTORY %f %f\n", trajectory[i], likelihood_trajectory[i]);
//} //}
System.out.print("\n\n"); //System.out.print("\n\n");
return null; return null;
} }
@ -181,6 +213,11 @@ public class PoolCaller extends LocusWalker<AlleleFrequencyEstimate, String>
SAMRecord read = context.getReads().get(i); SAMRecord read = context.getReads().get(i);
Integer offset = context.getOffsets().get(i); Integer offset = context.getOffsets().get(i);
String RG = (String)(read.getAttribute("RG")); String RG = (String)(read.getAttribute("RG"));
assert(header != null);
//System.out.printf("RG: %s\n", RG);
assert(header.getReadGroup(RG) != null);
String sample = header.getReadGroup(RG).getSample(); String sample = header.getReadGroup(RG).getSample();
if (sample == sample_name) if (sample == sample_name)
{ {