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Ploidy level in HaplotypeCaller in GATK 4.0

Hi, Thanks for the new version of GATK (GATK4.0). We have a pooling of 48 samples and the organism is diploid, we are using ploidy of 96 (48x2=96). earlier when I am using HaplotypeCaller for variant...

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GATK4.0.0.0 HCspark step run on spark cluster, -Unable to find _SUCCESS file

hello l tried to use the latest GATK version 4.0.0.0 on spark cluter,this step is HCspark .but I meet the question as follow the picture but when i can find it in my hdfs system,the result as follow...

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IndelRealignment step: Lost of reads?

I'm using IndelRealigner tool on my BAM file and then counting the number of reads in the BAM file using samtools stats and it turns out that in my input BAM I have 167170574 reads mapped while in the...

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Values for indel qualities

Hi, I am a researcher from the Politecnico di Milano. I would like to ask a clarification about the indel qualities transition probabilites of the PairHMM in HaplotypeCaller. I am using some of your...

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Picard Sort Vcf Error

Hello. I am using GATK version 3.6, picard-2.8.2.jar I downloaded hapmap_3.3.hg38.vcf from gatk resource bundle. I then used the below command to remove chr notation. awk '{gsub(/^chr/,""); print}'...

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Is GATK4 HaplotypeCaller in evaluation phase?

Hi GATK team, Congratulations on the release! I just found this public method in FireCloud that notes that HaplotypeCaller in GATK4 should not be used for production use yet since it is still in...

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FilterSAMReads ReadID pattern in Read_LIST_FILE

Hello, I am running FilterSamReads in picardtools with the following command: java -jar /bioinf/software/picard/picard-1.133/picard.jar FilterSamReads...

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MuTect2 and smalls mpileup reads info seem to be very different?

Hi - I used MuTect2 to call variants in multiple samples from one patient. However, I wanted read information for those samples where a mutation wasn't detected in all the samples and decided to use...

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-nct not present in GATK 4.0.0.0

Hi, Is --native-pair-hmm-threads in GATK 4.0.0.0 same as -nct in older GATK versions?

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Please help for the very beginer--cannot build GATK4

Hello, I am very new unix learner. I use bash on Ubuntu on Windows10 I have downloaded and unzipped GATK-4.0.1.1, and gradle wrapper (latest version), java version:openJDK 1.8 when I run ./gradlew in...

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Questions about GenotypeVCFs output

Hi, I generated 12 .g.vcf files with HaplotypeCaller in GVCF mode and then a vcf with GenotypeGVCFs. What's the easiest way to split this vcf per sample ? Should I apply hard filtering first and then...

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About SelectVariants

I want to filter out the variants if VAF in tumor samples was more than 0.3. Command line: gatk SelectVariants -V somatic_twofiltered.vcf -R ucsc.hg19.fasta -select...

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Where to find CreateSequenceDictionary.jar?

I've downloaded the recent GATK 3.7-0 release, which does not include CreateSequenceDictionary.jar. Is the following command replaced by something new? java -jar CreateSequenceDictionary.jar R=...

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HaplotypeCaller warnings DepthPerSampleHC

Hi I'm trying to do a multisample variant call using several bam files in the following cmd /mnt/fastdata/md1jale/software/gatk-4.0.1.0/gatk HaplotypeCaller -R /mnt/fastdata/md1jale/reference/hs37d5.fa...

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no. of cores utilization in haplotypcaller in GVCF mode

Hi, I am running Haplotypecaller (v4.0.1.2) (not the spark version) on some WGS samples on a SGE (Sun grid Engine) cluster. When I am submitting a job to my cluster, I am asking for 1 core (on an 8...

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AF in vcf files

There is some inconsistency in the community on how to calculate the AF (allele frequency) value in vcf files. GATK calculates a hypothetical value (0, 0.5 or 1 for normal diploid organisms). Other...

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How can I exclude multi-mapped reads before using UnifiedGenotyper to call SNPs

Hi, how can I exclude multi-mapped reads before using UnifiedGenotyper to call SNPs? You mentioned picard that could be used to exclude multi-mapped reads. However, which tool of picard should be used?...

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Variant calls in mixed samples - HaplotypeCaller GVCF

I have a question about the behavior of HaplotypeCaller when used incorrectly Specifically, how would it call variants from a diploid sequence if the ploidy was set to 1? Would it simply call the most...

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RealignerTargetCreator hangs

Hi GATK team! we have an issue with running the RealignerTargetCreator unfortunately. Commandline looks like this: gatk -T RealignerTargetCreator -R ref.fasta -I /testsample.sorted.bam -nt 32 -o...

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How can I exclude multi-mapped reads before using UnifiedGenotyper to call SNPs

Hi, how can I exclude multi-mapped reads before using UnifiedGenotyper to call SNPs? You mentioned picard that could be used to exclude multi-mapped reads. However, which tool of picard should be used?...

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