diff --git a/protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/GatherBqsrReports.java b/protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/GatherBqsrReports.java index c7d8e88b7..968ade0e0 100644 --- a/protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/GatherBqsrReports.java +++ b/protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/GatherBqsrReports.java @@ -62,17 +62,38 @@ import java.io.File; import java.util.List; /** - * relevant javadoc from the underlying gatk class: + * Gather recalibration reports from parallelized base recalibration runs * - * Gathers recalibration reports by adding all observations and errors + * This tool is intended to be used to combine recalibration tables from runs of BaseRecalibrator parallelized per-interval. + * The combination is done simply by adding up all observations and errors. * - * Note: This method DOES NOT recalculate the empirical qualities and quantized qualities. You have to recalculate + *

Usage

+ *

Note that this is a command-line utility that bypasses the GATK engine. As a result, the command-line you must use to + * invoke it is a little different from other GATK tools (see example below), and it does not accept any of the + * classic "CommandLineGATK" arguments.

+ * + *

Input

+ * List of scattered BQSR files + * + *

Output

+ * Combined recalibration table in GATKReport format. + * + *

Command

+ *
+ *     java -cp GenomeAnalysisTK.jar org.broadinstitute.gatk.tools.GatherBqsrReports \
+ *          -I input.list \
+ *          -O output.grp
+ * 
+ * + *

Caveats

+ * * */ diff --git a/protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/walkers/annotator/AS_InbreedingCoeff.java b/protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/walkers/annotator/AS_InbreedingCoeff.java index ad64730aa..3515fe019 100644 --- a/protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/walkers/annotator/AS_InbreedingCoeff.java +++ b/protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/walkers/annotator/AS_InbreedingCoeff.java @@ -72,7 +72,7 @@ import org.broadinstitute.gatk.utils.variant.GATKVCFHeaderLines; import java.util.*; /** - * Allele-specific, likelihood-based test for the inbreeding among samples + * Allele-specific likelihood-based test for the inbreeding among samples * *

This annotation estimates whether there is evidence of inbreeding in a population. The higher the score, the higher the chance that there is inbreeding.

* @@ -81,8 +81,14 @@ import java.util.*; * *

Caveats

* + * + *

Related annotations

+ * * */ diff --git a/protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/walkers/annotator/AS_QualByDepth.java b/protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/walkers/annotator/AS_QualByDepth.java index e5cad49a6..4dd30aeae 100644 --- a/protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/walkers/annotator/AS_QualByDepth.java +++ b/protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/walkers/annotator/AS_QualByDepth.java @@ -71,16 +71,16 @@ import org.broadinstitute.gatk.utils.variant.GATKVCFHeaderLines; import java.util.*; /** - * Per-allele call confidence normalized by depth of sample reads supporting the allele + * Allele-specific call confidence normalized by depth of sample reads supporting the allele * *

This annotation puts the variant confidence QUAL score into perspective by normalizing for the amount of coverage available. Because each read contributes a little to the QUAL score, variants in regions with deep coverage can have artificially inflated QUAL scores, giving the impression that the call is supported by more evidence than it really is. To compensate for this, we normalize the variant confidence by depth, which gives us a more objective picture of how well supported the call is.

* *

Statistical notes

*

The QD is the QUAL score normalized by allele depth (AD) for a variant. For a single sample, the HaplotypeCaller calculates the QD by taking QUAL/AD. For multiple samples, HaplotypeCaller and GenotypeGVCFs calculate the QD by taking QUAL/AD of samples with a non hom-ref genotype call. The reason we leave out the samples with a hom-ref call is to not penalize the QUAL for the other samples with the variant call.

- *

Here is a single sample example:

+ *

Here is a single-sample example:

*
2	37629	.	C	G	1063.77	.	AC=2;AF=1.00;AN=2;DP=31;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=58.50;QD=34.32;SOR=2.376	GT:AD:DP:GQ:PL:QSS	1/1:0,31:31:93:1092,93,0:0,960

QUAL/AD = 1063.77/31 = 34.32 = QD

- *

Here is a multi-sample example:

+ *

Here is a multi-sample example:

*
10	8046	.	C	T	4107.13	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-3.717;DP=1063;FS=1.616;MLEAC=1;MLEAF=0.167;QD=11.54
  GT:AD:DP:GQ:PL:QSS	0/0:369,4:373:99:0,1007,12207:10548,98	    0/0:331,1:332:99:0,967,11125:9576,27	    0/1:192,164:356:99:4138,0,5291:5501,4505
*

QUAL/AD = 4107.13/356 = 11.54 = QD

@@ -91,6 +91,7 @@ import java.util.*; * *

Related annotations

* diff --git a/protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/walkers/annotator/ExcessHet.java b/protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/walkers/annotator/ExcessHet.java index f50c4ae27..274b9ced2 100644 --- a/protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/walkers/annotator/ExcessHet.java +++ b/protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/walkers/annotator/ExcessHet.java @@ -79,20 +79,23 @@ import java.util.*; /** * Phred-scaled p-value for exact test of excess heterozygosity * - *

This annotation is a one-sided phred-scaled p-value using an exact test of the Hardy-Weinberg Equilibrium. The null hypothesis is that the number of heterozygotes follows the Hardy-Weinberg Equilibrium. The p-value is the probability of getting the same or more heterozygotes as was observed, given the null hypothesis. The implementation used is adapted from Wigginton JE, Cutler DJ, Abecasis GR. A Note on Exact Tests of Hardy-Weinberg Equilibrium. American Journal of Human Genetics. 2005;76(5):887-893.

+ * This annotation estimates excess heterozygosity in a population of samples. It is related to but distinct from InbreedingCoeff, which estimates evidence for inbreeding in a population. ExcessHet scales more reliably to large cohort sizes. * *

Statistical notes

+ *

This annotation is a one-sided phred-scaled p-value using an exact test of the Hardy-Weinberg Equilibrium. The null hypothesis is that the number of heterozygotes follows the Hardy-Weinberg Equilibrium. The p-value is the probability of getting the same or more heterozygotes as was observed, given the null hypothesis.

+ *

The implementation used is adapted from Wigginton JE, Cutler DJ, Abecasis GR. A Note on Exact Tests of Hardy-Weinberg Equilibrium. American Journal of Human Genetics. 2005;76(5):887-893.

*

The p-value is calculated exactly by using the Levene-Haldane distribution. This implementation also uses a mid-p correction as described by Graffelman, J. & Moreno, V. (2013). The mid p-value in exact tests for Hardy-Weinberg equilibrium. Statistical Applications in Genetics and Molecular Biology, 12(4), pp. 433-448.

* *

Caveats

* * *

Related annotations

* * */ diff --git a/protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/walkers/annotator/InbreedingCoeff.java b/protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/walkers/annotator/InbreedingCoeff.java index 122767bfb..46a92eb5d 100644 --- a/protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/walkers/annotator/InbreedingCoeff.java +++ b/protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/walkers/annotator/InbreedingCoeff.java @@ -80,14 +80,15 @@ import java.util.*; * *

Caveats

* * *

Related annotations

* * */ diff --git a/protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/walkers/annotator/QualByDepth.java b/protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/walkers/annotator/QualByDepth.java index 751b02d1b..d1f7cef5e 100644 --- a/protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/walkers/annotator/QualByDepth.java +++ b/protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/walkers/annotator/QualByDepth.java @@ -73,16 +73,16 @@ import htsjdk.variant.variantcontext.VariantContext; import java.util.*; /** - * Variant confidence normalized by depth of variant samples + * Variant call confidence normalized by depth of sample reads supporting a variant * *

This annotation puts the variant confidence QUAL score into perspective by normalizing for the amount of coverage available. Because each read contributes a little to the QUAL score, variants in regions with deep coverage can have artificially inflated QUAL scores, giving the impression that the call is supported by more evidence than it really is. To compensate for this, we normalize the variant confidence by depth, which gives us a more objective picture of how well supported the call is.

* *

Statistical notes

*

The QD is the QUAL score normalized by allele depth (AD) for a variant. For a single sample, the HaplotypeCaller calculates the QD by taking QUAL/AD. For multiple samples, HaplotypeCaller and GenotypeGVCFs calculate the QD by taking QUAL/AD of samples with a non hom-ref genotype call. The reason we leave out the samples with a hom-ref call is to not penalize the QUAL for the other samples with the variant call.

- *

Here is a single sample example:

+ *

Here is a single-sample example:

*
2	37629	.	C	G	1063.77	.	AC=2;AF=1.00;AN=2;DP=31;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=58.50;QD=34.32;SOR=2.376	GT:AD:DP:GQ:PL:QSS	1/1:0,31:31:93:1092,93,0:0,960

QUAL/AD = 1063.77/31 = 34.32 = QD

- *

Here is a multi-sample example:

+ *

Here is a multi-sample example:

*
10	8046	.	C	T	4107.13	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-3.717;DP=1063;FS=1.616;MLEAC=1;MLEAF=0.167;QD=11.54
    GT:AD:DP:GQ:PL:QSS	0/0:369,4:373:99:0,1007,12207:10548,98	    0/0:331,1:332:99:0,967,11125:9576,27	    0/1:192,164:356:99:4138,0,5291:5501,4505
*

QUAL/AD = 4107.13/356 = 11.54 = QD

@@ -92,6 +92,7 @@ import java.util.*; * *

Related annotations

*