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Error in VariantAnnotator

hi Because my reference is in scaffold level and GATK not designed to analyse such referenes, thus my variant caller project done using samtools. Now i want to add QD(qualityofdepth) to vcf files using...

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Alignment and Variant calling using hg38DH

Dear GATK Team, I want to perform alignment and variant analysis for whole genome sample using hg38DH build. I have gone through forum and came to know that it is quite different. here is the reference...

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CombineVariants error unexpected bases in allele bases '*T'

Hi there, I ran the following command java -jar $gatk_jar -T CombineVariants -R ${hs37d5} \ --variant ${name1} --variant ${name2} \ -o combined.vcf \ -genotypeMergeOptions UNIQUIFY I followed the best...

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picard.sam.MergeBamAlignment fails

Hello, I'm a new user to Picard. I am running Picard as part of a pipeline in Drop-Seq. My command is [Thu Nov 24 08:22:35 EST 2016] picard.sam.MergeBamAlignment...

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How to fix "mis-encoded base qualities"? Is there a recommended program?

GATK BaseRecalibrator and UnifiedGenotyper gave the same error messages as below. Basically, gatk doesn't take my bam file because of "mis-encoded base qualities". What can I do with the base...

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FastaAlternateReferenceMaker not replacing bases at all variant sites in the...

Hi, I have processed a Canine Whole Exome sequencing data set using GATK and generated a VCF file with variants. My end goal is to get the DNA sequences corresponding to each variant with the reference...

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UnmappedReadFilter

I would like to know how UnmappedReadFilter identify umapped reads from bam files? one more thing, the read count is much higher than number of reads i have in the original sam file.So, how mutect2...

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Unified Genoptyper joint calling on poolseq data: variable ploidy

Hi, I know Unified Genotyper has been superseded by Haplotype Caller, though due to time constraints (and other) I am committed to use UG. I have 14 population pools with variable numbers of...

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error: use BaseRecalibrator do BQSR

I try to use BaseRecalibrator to generate a .grp file or a .table file, so I could do variant call after that my input file is bam file which has been sort/add header/Duplicates Marking/index/Local...

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MergeBamAlignment Failure

Hello, I'm trying to use Picard 2.9.0-1-gf5b9f50-SNAPSHOT's MergeBamAlignment, but get this error: this command: java -jar ../picard.jar MergeBamAlignment...

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HaplotypeCaller v3.7.0 alternative allele depth not emitted

Hi I just noticed the alternative allele read depth is missing for a true positive insertion called with HaplotypeCaller v3.7.0. #SNPs and Indels GVCF with Haplotypecaller...

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Bimodal MQ distribution

Hi GATK-team, I am working with a dataset of WG human samples (Illumina paired-end, ~30X) comprising about 120 samples, all from Africa (from ~25 different populations). For 2/3 of the samples the data...

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[WDL][Cromwell] Submitting a workflow with a subworkflow to the cloud.

Hi, I am having an issue with how to appropriately submit a WDL workflow to the cloud when a subworkflow is involved, which I have not been able to find anything in the forums or spec sheets to explain...

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(howto) Call variants with HaplotypeCaller

Objective Call variants on a single genome with the HaplotypeCaller, producing a raw (unfiltered) VCF. Caveat This is meant only for single-sample analysis. To analyze multiple samples, see the Best...

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Cosmic variants vcf and picard SortVcf

Dear GATK team, I am using MuTect2 to call somatic mutations from normal and tumour paired sample.One of the parameter is --cosmic I downloaded Cosmic VCF file from sftp-cancer.sanger.ac.uk,...

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IndelRealigner runtime error with GATK version 3.5-0-g36282e4

Hi, I was trying to map a WGS sequence following the GATK best practice. I used bwa -mem to map. Then I used picard to sort, mark duplicates before passing into the IndelRealigner. When running the...

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VQSR: Negative Number of SNPs in tranche

Dear GATK-Team, using VQSR on pig pooled data prepared according to the best practices pipeline, I encounter negative numbers of SNPs in the tranch plot. Following your recommendations for species with...

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Runtime Error, SRA Accession problem.

Hello. My DepthOfCoverage returns RUNTIME ERROR, which is strange, because exactly the same command worked perfectly yesterday. Seems like I'm having a problem with automatic downloading of SRA toolkit...

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False indel PASSed but not covered in IGV

Hi there, I came across a set of false positive indels obtained in some targeted sequencing experiments. Situations are similar to the following, where a deletion looks to have high quality, according...

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Why analyze RNAseq samples together to boost the variant discovery ?

Hi, I'm working with RNAseq data from one patient (2 conditions), you recommend analyzing all samples together, because it will boost the discovery power, why ? Many thanx, Jennifer

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