Question: why there is 0/0 genotyp in VCF file?
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9 months ago by
star230 wrote:

I have multiple VCF files (they are not multiple-sample VCF) and I just looked the genotypes and I saw there are 4 genotypes for each variant like: 0/0, 0/1, 1/1, ./. . The last three genotypes are clear to me, but I don`t understand why we have 'Hom_ref genotype' in the VCF files? And shall I ignore them?

variant gatk vcf • 346 views
ADD COMMENTlink written 9 months ago by star230

Was this VCF generated from just a single sample or was it created by a multi-sample VCF being split? If it's the latter, the presence of 0/0 has a more obvious reason. If it's the former, the variant calling algorithm needs to be looked into to understand the criteria for a hom-ref call to be made.

ADD REPLYlink written 9 months ago by RamRS27k

I guess it is only one sample.

here is the header of VCF:

##GATKCommandLine.HaplotypeCaller=<ID=HaplotypeCaller,Version=3.7-0-gcfedb67,Date="Tue Aug 06 15:56:24 EDT 2018",Epoch=1565122164357,CommandLineOptions="analysis_type=HaplotypeCaller input_file=[df.bam] showFullBamList=false read_buffer_size=null read_filter=[] disable_read_filter=[] intervals=[chr2] excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=/reference/hg19/hg19.fa nonDeterministicRandomSeed=false disableDithering=false maxRuntime=-1 maxRuntimeUnits=MINUTES downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=500 baq=OFF baqGapOpenPenalty=40.0 refactor_NDN_cigar_string=false fix_misencoded_quality_scores=false allow_potentially_misencoded_quality_scores=false useOriginalQualities=false defaultBaseQualities=-1 performanceLog=null BQSR=null quantize_quals=0 static_quantized_quals=null round_down_quantized=false disable_indel_quals=false emit_original_quals=false preserve_qscores_less_than=6 globalQScorePrior=-1.0 secondsBetweenProgressUpdates=10 validation_strictness=SILENT remove_program_records=false keep_program_records=false sample_rename_mapping_file=null unsafe=null disable_auto_index_creation_and_locking_when_reading_rods=false no_cmdline_in_header=false sites_only=false never_trim_vcf_format_field=false bcf=false bam_compression=null simplifyBAM=false disable_bam_indexing=false generate_md5=false num_threads=1 num_cpu_threads_per_data_thread=1 num_io_threads=0 monitorThreadEfficiency=false num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false generateShadowBCF=false variant_index_type=DYNAMIC_SEEK variant_index_parameter=-1 reference_window_stop=0 phone_home= gatk_key=null tag=NA logging_level=INFO log_to_file=null help=false version=false out=/df.dbsnp.vcf.gz likelihoodCalculationEngine=PairHMM heterogeneousKmerSizeResolution=COMBO_MIN dbsnp=(RodBinding name=dbsnp source=allels.sorted.vcf.gz) dontTrimActiveRegions=false maxDiscARExtension=25 maxGGAARExtension=300 paddingAroundIndels=150 paddingAroundSNPs=20 comp=[] annotation=[] excludeAnnotation=[] group=[StandardAnnotation, StandardHCAnnotation] debug=false useFilteredReadsForAnnotations=false emitRefConfidence=NONE bamOutput=null bamWriterType=CALLED_HAPLOTYPES emitDroppedReads=false disableOptimizations=false annotateNDA=false useNewAFCalculator=false heterozygosity=0.001 indel_heterozygosity=1.25E-4 heterozygosity_stdev=0.01 standard_min_confidence_threshold_for_calling=10.0 standard_min_confidence_threshold_for_emitting=30.0 max_alternate_alleles=6 max_genotype_count=1024 max_num_PL_values=100 input_prior=[] sample_ploidy=2 genotyping_mode=GENOTYPE_GIVEN_ALLELES alleles=(RodBinding name=alleles source=allels.sorted.vcf.gz) contamination_fraction_to_filter=0.0 contamination_fraction_per_sample_file=null p_nonref_model=null exactcallslog=null output_mode=EMIT_VARIANTS_ONLY allSitePLs=false gcpHMM=10 pair_hmm_implementation=VECTOR_LOGLESS_CACHING pair_hmm_sub_implementation=ENABLE_ALL always_load_vector_logless_PairHMM_lib=false phredScaledGlobalReadMismappingRate=45 noFpga=false sample_name=null kmerSize=[10, 25] dontIncreaseKmerSizesForCycles=false allowNonUniqueKmersInRef=false numPruningSamples=1 recoverDanglingHeads=false doNotRecoverDanglingBranches=false minDanglingBranchLength=4 consensus=false maxNumHaplotypesInPopulation=128 errorCorrectKmers=false minPruning=2 debugGraphTransformations=false allowCyclesInKmerGraphToGeneratePaths=false graphOutput=null kmerLengthForReadErrorCorrection=25 minObservationsForKmerToBeSolid=20 GVCFGQBands=[1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 40, 41, 42, 43, 44, 45, 46, 47, 48, 49, 50, 51, 52, 53, 54, 55, 56, 57, 58, 59, 60, 70, 80, 90, 99] indelSizeToEliminateInRefModel=10 min_base_quality_score=10 includeUmappedReads=false useAllelesTrigger=false doNotRunPhysicalPhasing=true keepRG=null justDetermineActiveRegions=false dontGenotype=false dontUseSoftClippedBases=false captureAssemblyFailureBAM=false errorCorrectReads=false pcr_indel_model=CONSERVATIVE maxReadsInRegionPerSample=10000 minReadsPerAlignmentStart=10 mergeVariantsViaLD=false activityProfileOut=null activeRegionOut=null activeRegionIn=null activeRegionExtension=null forceActive=false activeRegionMaxSize=null bandPassSigma=null maxReadsInMemoryPerSample=30000 maxTotalReadsInMemory=10000000 maxProbPropagationDistance=50 activeProbabilityThreshold=0.002 min_mapping_quality_score=20 filter_reads_with_N_cigar=false filter_mismatching_base_and_quals=false filter_bases_not_stored=false">
ADD REPLYlink modified 9 months ago • written 9 months ago by star230

I provided an answer, here: C: Why is 0/0 homozygous reference call in VCF useful information?

ADD REPLYlink written 9 months ago by Kevin Blighe59k

Thanks but my VCF is a single sample VCF file.

ADD REPLYlink written 9 months ago by star230

In most situations, if you see a 0/0, it will appear in a multi-sample VCF at a site where a HET or HOM variant was called in another sample at the same site.

How does one account for single sample hom-ref calls though?

ADD REPLYlink written 9 months ago by RamRS27k

The occurrence of 0/0 in a single sample VCF may be caused by low-quality mapping.

ADD REPLYlink written 9 months ago by Arup Ghosh2.4k

Can you expand on this a little? I'm curious how low quality mapping can result in hom-ref calls.

ADD REPLYlink written 9 months ago by RamRS27k

Actually, I came across a freebayes issue with Homo ref call, forgot to reference it.

ADD REPLYlink written 9 months ago by Arup Ghosh2.4k

That issue does not reach the conclusion that a 0/0 is caused by low quality mapping. Low quality would result in ./. if anything, IMO.

ADD REPLYlink written 9 months ago by RamRS27k

We don`t get ./. genotype, if there is low Q mapping?

ADD REPLYlink written 9 months ago by star230
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