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Ryan Poplin committed Aug 20, 2012
2 parents 94eeb79 + bda2663 commit 293e682
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/**
* Total (unfiltered) depth over all samples.
*
* This and AD are complementary fields that are two important ways of thinking about the depth of the data for this sample
* at this site. The DP field describe the total depth of reads that passed the Unified Genotypers internal
* quality control metrics (like MAPQ > 17, for example), whatever base was present in the read at this site.
* The AD values (one for each of REF and ALT fields) is the count of all reads that carried with them the
* REF and ALT alleles. The reason for this distinction is that the DP is in some sense reflective of the
* power I have to determine the genotype of the sample at this site, while the AD tells me how many times
* I saw each of the REF and ALT alleles in the reads, free of any bias potentially introduced by filtering
* the reads. If, for example, I believe there really is a an A/T polymorphism at a site, then I would like
* to know the counts of A and T bases in this sample, even for reads with poor mapping quality that would
* normally be excluded from the statistical calculations going into GQ and QUAL.
*
* Note that the DP is affected by downsampling (-dcov) though, so the max value one can obtain for N samples with
* -dcov D is N * D
* While the sample-level (FORMAT) DP field describes the total depth of reads that passed the Unified Genotyper's
* internal quality control metrics (like MAPQ > 17, for example), the INFO field DP represents the unfiltered depth
* over all samples. Note though that the DP is affected by downsampling (-dcov), so the max value one can obtain for
* N samples with -dcov D is N * D
*/
public class DepthOfCoverage extends InfoFieldAnnotation implements StandardAnnotation, ActiveRegionBasedAnnotation {

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/**
* The depth of coverage of each VCF allele in this sample.
*
* This and DP are complementary fields that are two important ways of thinking about the depth of the data for this sample
* at this site. The DP field describe the total depth of reads that passed the Unified Genotypers internal
* quality control metrics (like MAPQ > 17, for example), whatever base was present in the read at this site.
* The AD values (one for each of REF and ALT fields) is the count of all reads that carried with them the
* The AD and DP are complementary fields that are two important ways of thinking about the depth of the data for this
* sample at this site. While the sample-level (FORMAT) DP field describes the total depth of reads that passed the
* Unified Genotyper's internal quality control metrics (like MAPQ > 17, for example), the AD values (one for each of
* REF and ALT fields) is the unfiltered count of all reads that carried with them the
* REF and ALT alleles. The reason for this distinction is that the DP is in some sense reflective of the
* power I have to determine the genotype of the sample at this site, while the AD tells me how many times
* I saw each of the REF and ALT alleles in the reads, free of any bias potentially introduced by filtering
* the reads. If, for example, I believe there really is a an A/T polymorphism at a site, then I would like
* to know the counts of A and T bases in this sample, even for reads with poor mapping quality that would
* normally be excluded from the statistical calculations going into GQ and QUAL. Please note, however, that
* the AD isn't necessarily calculated exactly for indels (it counts as non-reference only those indels that
* are actually present and correctly left-aligned in the alignments themselves). Because of this fact and
* are unambiguously informative about the alternate allele). Because of this fact and
* because the AD includes reads and bases that were filtered by the Unified Genotyper, <b>one should not base
* assumptions about the underlying genotype based on it</b>; instead, the genotype likelihoods (PLs) are what
* determine the genotype calls (see below).
* determine the genotype calls.
*/
public class DepthPerAlleleBySample extends GenotypeAnnotation implements StandardAnnotation {

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Expand Up @@ -136,6 +136,10 @@ public class BaseRecalibrator extends LocusWalker<Long, Long> implements TreeRed
*/
public void initialize() {

// TODO -- remove me after the 2.1 release
if ( getToolkit().getArguments().numberOfThreads > 1 )
throw new UserException("We have temporarily disabled the ability to run BaseRecalibrator multi-threaded for performance reasons. We hope to have this fixed for the next GATK release (2.2) and apologize for the inconvenience.");

// check for unsupported access
if (getToolkit().isGATKLite() && !getToolkit().getArguments().disableIndelQuals)
throw new UserException.NotSupportedInGATKLite("base insertion/deletion recalibration is not supported, please use the --disable_indel_quals argument");
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