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Extremely high depth of coverage

Dear all, I've run the DepthOfCoverage tool on 263 WGS samples and have found some unusual total and averages for some regions. Does it mean any sort of error on the alignment or I can just filtered...

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CalculateGenotypePosteriors and pedigree file

I am trying to use the CalculateGenotypePosteriors tool using only family priors. I understand that the pedigree file should be in plink format. I have two large half-sib families with RAD-Seq data. So...

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Which training sets / arguments should I use for running VQSR?

This document describes the resource datasets and arguments that we recommend for use in the two steps of VQSR (i.e. the successive application of VariantRecalibrator and ApplyRecalibration), based on...

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While using HaplotypeCaller not enough memory

I am using the HaplotypeCaller but I am getting the error not enough memory to run this program java -jar -Xmx8g /home/manager/Downloads/GenomeAnalysisTK-3.6/GenomeAnalysisTK.jar -T HaplotypeCaller -R...

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error in compilation of SortSam using Queue

Hello, I have been trying to run SortSam using Queue on my data (using this sample code here: http://gatkforums.broadinstitute.org/gatk/discussion/3293/scala-script-for-running-queue) When I try the...

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LeftAlignAndTrimVariants --splitMultiallelics changes GT from known to unknown

I have a VCF file with this line (i.e. GT=0/1=G/T): 20 10120854 . G T,A 32175.56 . AC=399,18;AF=0.111,5.006e-03;AN=3596;BaseQRankSum=1...

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GATK command for adding known vcf file for SNP's so as to filter it out

Hi, I want to add a known vcf file of snps maybe from one of the databases of snp and want to remove those snp's if they also occur in my sample. How can I do this in GATK. Also I am interested in...

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MESSAGE: Unable to create iterator for rod named variant in GenotypeGVCFs

Hi all, I tried everything I can do, but can not find the solution. Any help will be appreciated. PROGRAM DETAILS: GATK version: GATK v3.6-0-g89b7209 Program Args: -T GenotypeGVCFs -D dbsnp_137.b37.vcf...

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SplitNCigarReads complains about N in CIGAR

I am working on RNAseq data. I expect SplitNCigarReads can handel spliced reads, but it complains about N in CIGAR. I just wonder whether SplitNCigarReads is ready to handle spliced reads or still...

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GATK licensing through Broad starts today

It’s official! As of today, we are able to offer commercial licenses for GATK and MuTect directly through Broad. Stay tuned for details of terms & conditions, coming soon to this very blog. In the...

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Any way to restrict HaplotypeCaller to work only on a set of regions?

Hi, for diagnostic purposes, I would like to run HaplotypeCaller on very small regions (even just a single base locus). I thought that was what the -AR switch was for, so I have: java -jar...

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Can we implement GATK/Queue on google hadoop?

Hello, I`m new to GATK and Queue. I understand that we can write a QScript in Queue to generate separate GATK jobs and run them on a cluster of several nodes. Can we implement GATK or Queue on google...

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SNPs not filtered out in hard filtering

Hi! I hope you can give me some help or advice on the hard filtering of the SNPs. I'm working on the lovebird genome and my reference genome is a young male (we did the assembly) and its parents are...

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A question about using GenomeAnalysisTK to deal with ancient DNA data

Hi,Team, I want to call variants for some ancient samples using HaplotypeCaller. My command is as follows: java -jar GenomeAnalysisTK.jar -R myref.fa -T HaplotypeCaller -ERC BP_RESOLUTION -I 1.bam -L...

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Limit on number of samples that can be handled in the joint calling pipeline

Hello, I have not tried testing the limit yet on the number of samples for the joint calling pipeline (i.e., HaplotypeCaller in GVCF mode, CombineGVCFs and GenotypeGVCFs) but do you guys allready know...

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Get all VCF files in proper format?

Hi, I tried running the following command to generate the VCF file using Haplotype Caller java -jar GenomeAnalysisTK.jar -T HaplotypeCaller --dbsnp chr7.vcf -R chr7.fa -I chr7.bam -A AlleleBalance...

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File number limit for GenotypeGVCFs

Hi there: I'm trying to figure out if I need to run CombineGVCFs before GenotypeGVCFs. The documentation said "One would use this tool when needing to genotype too large a number of individual gVCFs"....

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Guidelines for using CombineGVCFs

Hi, In the documentation for CombineGVCFs it says: CombineGVCFs is meant to be used for hierarchical merging of gVCFs that will eventually be input into GenotypeGVCFs. One would use this tool when...

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Reduce mutect running time

I'm running mutect-1.1.7.jar using java 1.7 on the dutch-lsgrid and it runs longer than the limit imposed of 72 hours wall time as it cannot run in parallel. How can I reduce the running time by using...

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Undergraduate Research using Neutral Theory, Tajima's D (somewhat), and SNPs

Hi everyone, I'm going to explain my undergraduate research and I hope you can tell me if this bioinformatics software will help me. So basically my question states, "Is asthma a modern ailment (due to...

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