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Missing or Inconsistent call between single-sample and multi-sample SNP calling

Dear all, I have generated a gVCF file using HaplotypeCaller (v3.7)and searched for a specific variant of interest which looks like below: #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT N417 chr1 627033...

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QD Annotation error in GATK in VariantRecalibration step

hi all, i downloaded a BAM file from 1000 genomes to work on and converted it to FASTQ and aligned with bwa mem to hg38, this worked fine. later I wanted to run VariantRecalibration and use the...

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Spanning or overlapping deletions (* allele)

We use the term spanning deletion or overlapping deletion to refer to a deletion that spans a position of interest. The presence of a spanning deletion affects how we can represent genotypes at any...

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Missing field QD in vc variant (ERROR)

Hello! I'm trying to extract SNPs of interest from my filtered VCF file of passing SNPs. I just used SelectVariants to create that file, and am now trying to use VariantsToTable to put them into a...

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Differences between CollectFragmentCounts and CalculateTargetCoverage

Good afternoon, I was hoping somebody could help illuminate the differences/similarities between CollectFragmentCounts (4.0 official release) and CalculateTargetCoverage (4.3 Beta). Are these the same...

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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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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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picard ./gradlew test error

I have an error when tried to run ./gradle tests on my system. I am running Linux Mint 18 system. Could you please let me know what should I do? Thank you. $ java -version openjdk version "1.8.0_151"...

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[ERROR] GATK4 Mutect2

Hi, I want to call mutations for my WGS data. But, the workflow for one of my pairs is failed. I got the following ERROR message in MergeVcfs task. It seems that one of the VCF files is not in correct...

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[ERROR] make_acnv_pon_config

Hi, I want build a CNV PoN by "make_acnv_pon_config". But, I got a message as following. Any suggestions? Thanks a lot! I will really appreciate your help. Failures: message: Task...

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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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-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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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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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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unmapped BAM from Ion 16s Metagenomics Kit using MergeBamAlignment

I have sequenced 16s rRNA from waste water samples using Ion 16s Metagenomics kit. After paired-end sequencing using the machine Ion S5, I have received unmapped BAM files for all samples. Each uBAM...

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GATK4 Realign around indels

Hi, Looking through GATK4 best practices for pre-processing fastq files and do not see a "realign around indels" ( in GATK3 : java -jar GenomeAnalysisTK.jar -T RealignerTargetCreator ) . Should I use...

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VariantsToBinaryPed java.lang.ArrayIndexOutOfBoundsException: -1

Hello, can you please help me sort out the following error in running VariantsToBinaryPed: java -jar /sb/project/fkr-592-aa/data/GalWaRat/bin/third/gatk-3.7/GenomeAnalysisTK.jar -T VariantsToBinaryPed...

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Need clarification on Picard CollectHsMetrics (ZERO_CVG_TARGETS_PCT)

I used Picard CollectHsMetrics on whole exome data of 96 individuals. We used xGen® Exome Research Panel v1.0 exome capture kit. 1) In the output file ZERO_CVG_TARGETS_PCT ranges from 37-41. The...

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Recommendation Interval length for genomicsdb import

Dear GATK Team Is there any recommendations for the length of one interval specified in genomicsdb import? I am running a genomicsdb import for about 50 bam samples (from cattles) for whole length of...

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VariantAnnotator is not annotating variants with InbreedingCoeff

Hi, I am using GATK VariantAnnotator to annotate my VCF with the InbreedingCoeff but when I check the output VCF I see that no variant was annotated with the InbreedingCoeff. I've used a pedigree file...

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