Howto call germline SNPs from reads with MAPQ=0
I want to call SNPs from mapped reads with mapping quality MAPQ zero(for they are mapping to two homologous regions, so they got MQ=0 by bwa-mem)
I add params `--mapping-quality-threshold-for-genotyping 0 --minimum-mapping-quality 0`, but the variant is not called in gvcf.
And also, add more params like ` --disable-read-filter MappingQualityAvailableReadFilter --disable-read-filter MappingQualityReadFilter --disable-read-filter MappedReadFilter --disable-read-filter NotSecondaryAlignmentReadFilter --disable-read-filter NotDuplicateReadFilter`, the variant is still not called in gvcf.
REQUIRED for all errors and issues:
a) GATK version used: 4.3.0.0
b) Exact command used:
gatk --java-options "-Xmx30G -XX:ParallelGCThreads=40" HaplotypeCaller -R /data/Database/b37/human_g1k_v37.fasta -L X --native-pair-hmm-threads 40 -ERC GVCF -mbq 0 -O chrXsentieonRecal.g.vcf -I recaled.bam --mapping-quality-threshold-for-genotyping 0 --minimum-mapping-quality 0
c) Entire program log:
Running:
java -Dsamjdk.use_async_io_read_samtools=false -Dsamjdk.use_async_io_write_samtools=true -Dsamjdk.use_async_io_write_tribble=false -Dsamjdk.compression_level=2 -Xmx30G -XX:ParallelGCThreads=40 -jar /data/abc/softwares/gatk-4.3.0.0/gatk-package-4.3.0.0-local.jar HaplotypeCaller -R /data/Database/b37/human_g1k_v37.fasta -L X --native-pair-hmm-threads 40 -ERC GVCF -mbq 0 -O chrXsentieonRecal.gatk4.3.mmq0.mqtg0.g.vcf -I recaled.bam --mapping-quality-threshold-for-genotyping 0 --minimum-mapping-quality 0
17:06:43.071 INFO NativeLibraryLoader - Loading libgkl_compression.so from jar:file:/data/abc/softwares/gatk-4.3.0.0/gatk-package-4.3.0.0-local.jar!/com/intel/gkl/native/libgkl_compression.so
17:06:43.200 INFO HaplotypeCaller - ------------------------------------------------------------
17:06:43.200 INFO HaplotypeCaller - The Genome Analysis Toolkit (GATK) v4.3.0.0
17:06:43.200 INFO HaplotypeCaller - For support and documentation go to https://software.broadinstitute.org/gatk/
17:06:43.201 INFO HaplotypeCaller - Executing as abc@ls on Linux v5.4.0-126-generic amd64
17:06:43.201 INFO HaplotypeCaller - Java runtime: OpenJDK 64-Bit Server VM v1.8.0_352-8u352-ga-1~18.04-b08
17:06:43.201 INFO HaplotypeCaller - Start Date/Time: December 1, 2022 5:06:43 PM CST
17:06:43.201 INFO HaplotypeCaller - ------------------------------------------------------------
17:06:43.201 INFO HaplotypeCaller - ------------------------------------------------------------
17:06:43.201 INFO HaplotypeCaller - HTSJDK Version: 3.0.1
17:06:43.201 INFO HaplotypeCaller - Picard Version: 2.27.5
17:06:43.201 INFO HaplotypeCaller - Built for Spark Version: 2.4.5
17:06:43.201 INFO HaplotypeCaller - HTSJDK Defaults.COMPRESSION_LEVEL : 2
17:06:43.201 INFO HaplotypeCaller - HTSJDK Defaults.USE_ASYNC_IO_READ_FOR_SAMTOOLS : false
17:06:43.201 INFO HaplotypeCaller - HTSJDK Defaults.USE_ASYNC_IO_WRITE_FOR_SAMTOOLS : true
17:06:43.201 INFO HaplotypeCaller - HTSJDK Defaults.USE_ASYNC_IO_WRITE_FOR_TRIBBLE : false
17:06:43.202 INFO HaplotypeCaller - Deflater: IntelDeflater
17:06:43.202 INFO HaplotypeCaller - Inflater: IntelInflater
17:06:43.202 INFO HaplotypeCaller - GCS max retries/reopens: 20
17:06:43.202 INFO HaplotypeCaller - Requester pays: disabled
17:06:43.202 INFO HaplotypeCaller - Initializing engine
17:06:43.583 INFO IntervalArgumentCollection - Processing 155270560 bp from intervals
17:06:43.589 INFO HaplotypeCaller - Done initializing engine
17:06:43.591 INFO HaplotypeCallerEngine - Tool is in reference confidence mode and the annotation, the following changes will be made to any specified annotations: 'StrandBiasBySample' will be enabled. 'ChromosomeCounts', 'FisherStrand', 'StrandOddsRatio' and 'QualByDepth' annotations have been disabled
17:06:43.601 INFO HaplotypeCallerEngine - Standard Emitting and Calling confidence set to -0.0 for reference-model confidence output
17:06:43.601 INFO HaplotypeCallerEngine - All sites annotated with PLs forced to true for reference-model confidence output
17:06:43.613 INFO NativeLibraryLoader - Loading libgkl_utils.so from jar:file:/data/abc/softwares/gatk-4.3.0.0/gatk-package-4.3.0.0-local.jar!/com/intel/gkl/native/libgkl_utils.so
17:06:43.614 INFO NativeLibraryLoader - Loading libgkl_pairhmm_omp.so from jar:file:/data/abc/softwares/gatk-4.3.0.0/gatk-package-4.3.0.0-local.jar!/com/intel/gkl/native/libgkl_pairhmm_omp.so
17:06:43.636 INFO IntelPairHmm - Using CPU-supported AVX-512 instructions
17:06:43.636 INFO IntelPairHmm - Flush-to-zero (FTZ) is enabled when running PairHMM
17:06:43.636 INFO IntelPairHmm - Available threads: 64
17:06:43.636 INFO IntelPairHmm - Requested threads: 40
17:06:43.636 INFO PairHMM - Using the OpenMP multi-threaded AVX-accelerated native PairHMM implementation
17:06:43.670 INFO ProgressMeter - Starting traversal
17:06:43.670 INFO ProgressMeter - Current Locus Elapsed Minutes Regions Processed Regions/Minute
17:06:44.723 WARN InbreedingCoeff - InbreedingCoeff will not be calculated at position X:165361 and possibly subsequent; at least 10 samples must have called genotypes
17:06:45.493 WARN DepthPerSampleHC - Annotation will not be calculated at position X:186016 and possibly subsequent; genotype for sample 601681 is not called
17:06:45.493 WARN StrandBiasBySample - Annotation will not be calculated at position X:186016 and possibly subsequent; genotype for sample 601681 is not called
17:06:55.802 INFO ProgressMeter - X:801831 0.2 3050 15085.3
17:07:06.171 INFO ProgressMeter - X:1422128 0.4 5490 14639.3
17:07:16.173 INFO ProgressMeter - X:5330014 0.5 19490 35979.3
17:07:26.172 INFO ProgressMeter - X:11175050 0.7 39530 55804.4
17:07:36.173 INFO ProgressMeter - X:16225361 0.9 56920 65047.7
17:07:46.173 INFO ProgressMeter - X:21833404 1.0 76240 73186.9
17:07:56.175 INFO ProgressMeter - X:27070447 1.2 94410 78127.0
17:08:06.406 INFO ProgressMeter - X:32381934 1.4 112680 81715.3
17:08:16.421 INFO ProgressMeter - X:38274455 1.5 132880 85959.2
17:08:26.421 INFO ProgressMeter - X:43026485 1.7 149380 87228.3
17:08:36.470 INFO ProgressMeter - X:47067390 1.9 163390 86909.6
17:08:46.614 INFO ProgressMeter - X:48933669 2.0 170020 82975.0
17:08:56.613 INFO ProgressMeter - X:50903846 2.2 176820 79802.6
17:09:06.616 INFO ProgressMeter - X:53623681 2.4 186240 78172.2
17:09:16.978 INFO ProgressMeter - X:58569445 2.6 203410 79608.4
17:09:26.986 INFO ProgressMeter - X:62943964 2.7 218390 80233.4
17:09:36.987 INFO ProgressMeter - X:67974098 2.9 235630 81571.9
17:09:47.215 INFO ProgressMeter - X:70354035 3.1 243950 79746.1
17:09:57.300 INFO ProgressMeter - X:73041737 3.2 253290 78486.8
17:10:07.301 INFO ProgressMeter - X:75196904 3.4 260790 76841.9
17:10:17.305 INFO ProgressMeter - X:82315425 3.6 285280 80121.7
17:10:27.305 INFO ProgressMeter - X:90458838 3.7 313110 84005.6
17:10:37.307 INFO ProgressMeter - X:99212422 3.9 343010 88087.9
17:10:47.850 INFO ProgressMeter - X:102756788 4.1 355270 87297.1
17:10:57.895 INFO ProgressMeter - X:107827716 4.2 372630 87944.9
17:11:07.902 INFO ProgressMeter - X:113597336 4.4 392390 89101.2
17:11:17.903 INFO ProgressMeter - X:118944390 4.6 410880 89897.6
17:11:27.906 INFO ProgressMeter - X:122982260 4.7 424830 89678.3
17:11:37.925 INFO ProgressMeter - X:128708919 4.9 444500 90636.0
17:11:48.039 INFO ProgressMeter - X:132460716 5.1 457410 90168.8
17:11:58.070 INFO ProgressMeter - X:138871155 5.2 479460 91500.0
17:12:08.071 INFO ProgressMeter - X:146204901 5.4 504610 93331.1
17:12:18.073 INFO ProgressMeter - X:151406204 5.6 522480 93745.6
17:12:28.120 INFO ProgressMeter - X:153128361 5.7 528420 92045.9
17:12:38.122 INFO ProgressMeter - X:153616003 5.9 530210 89751.5
17:12:47.636 INFO HaplotypeCaller - 0 read(s) filtered by: MappingQualityReadFilter
0 read(s) filtered by: MappingQualityAvailableReadFilter
1578 read(s) filtered by: MappedReadFilter
0 read(s) filtered by: NotSecondaryAlignmentReadFilter
310165 read(s) filtered by: NotDuplicateReadFilter
0 read(s) filtered by: PassesVendorQualityCheckReadFilter
0 read(s) filtered by: NonZeroReferenceLengthAlignmentReadFilter
0 read(s) filtered by: GoodCigarReadFilter
0 read(s) filtered by: WellformedReadFilter
311743 total reads filtered
17:12:47.636 INFO ProgressMeter - X:155270531 6.1 536020 88363.2
17:12:47.636 INFO ProgressMeter - Traversal complete. Processed 536020 total regions in 6.1 minutes.
17:12:47.653 INFO VectorLoglessPairHMM - Time spent in setup for JNI call : 0.17919341500000002
17:12:47.653 INFO PairHMM - Total compute time in PairHMM computeLogLikelihoods() : 11.405189039000001
17:12:47.653 INFO SmithWatermanAligner - Total compute time in java Smith-Waterman : 58.62 sec
17:12:47.655 INFO HaplotypeCaller - Shutting down engine
[December 1, 2022 5:12:47 PM CST] org.broadinstitute.h
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