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Problem with joint genotyping

Dear Team, I am running joint calling (according to Best Practices). I have ~800 samples from 3 different centres.First I run CombineGVCFs on cases from batch1(~130samples), controls from...

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--cosmic option for Mutect2 in GATK 4.0 beta version?

Hi, What is the current option for "--cosmic" in Mutect2 tool name under GATK 4.0 beta version? I am trying to call variants in a panel of unmatched normals. Thank you.

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GetBayesianHetCoverage exits with code 247

When I run GetBayesianHetCoverage in a Docker container, the function exits without completing with code 247. The Docker container is built from an image that uses the Debian "Stretch" base image, with...

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Intervals and interval lists

Many of our workflow recommendations and example commands involve intervals or lists of intervals, which you can specify in your command line using -L (or -XL to exclude specific intervals). So where...

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[ERROR] CreatePanelOfNormals

I am trying to use CreatePanelOfNormals for build a PoN. java -Xmx128g -Djava.library.path=/usr/lib/jni/ -jar /root/gatk-protected.jar CreatePanelOfNormals -I...

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How to fix the error Unable to access jarfile GenomeAnalysisTK.jar

I have been trying to open the GATK and I always get the same error message: Unable to access jarfile GenomeAnalysisTK.jar. I have a Mac with OS X Yosemite. I also have the latest version of java...

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Spark in other clusters?

After experiencing some issues with GATK 3.2 on CentOS 7.4 (AVX changes broke everything), we've installed the newer versions - 3.8. I thought I'd install 4 beta to test, but am confused by all this...

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how does gatk haplotypecaller work in calling SNP with multiple threads?

hi,everyone! I am working on a project where i need to find variant sites(single Nucleotide variant),and i want to accerlerate it with multiple threads,I would like to know how to modify my code(C++)...

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Combining RAW_MQ and MQ

Hi, I have two batches of gvcfs : - one was processed using GATK-3.3 - one was processed using GATK-3.5 I want to perform a joint calling + VQSR using both batches together. The problem is that the...

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Why is HaplotypeCaller spending 8 hrs on "Strictness is SILENT" step?

Hi, I am running HaplotypeCaller on whole genome re-sequenced (~10X coverage) African buffalo genomes, using a high coverage African buffalo genome as the reference (~90X). The genome is about 2.8Gb....

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Picard: refFlat file not accepted

Hi there, I'm having some issues getting Picard to work. I want to run the CollectRnaSeqMetrics function, but it requires the input of a refFlat file. I'm having some trouble getting this refFlat file...

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Can't run any GATK4 tools on GCS dataproc

I'm having a strange issue running GATK4 tools on a dataproc cluster. I'm submitting from a Broad VM with an empty bash profile. As an example, here's what happens when I try to reproduce this...

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Understanding and adapting the generic hard-filtering recommendations

This document aims to provide insight into the logic of the generic hard-filtering recommendations that we provide as a substitute for VQSR. Hopefully it will also serve as a guide for adapting these...

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(How to) Map and clean up short read sequence data efficiently

If you are interested in emulating the methods used by the Broad Genomics Platform to pre-process your short read sequencing data, you have landed on the right page. The parsimonious operating...

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热烈欢迎我们的中国朋友 / A warm welcome to our Chinese friends

科研圈的亲们,我们来啦!携手国内重量级公司和机构,我们这次给大家带来了高效、规模化使用GATK的技巧! Today we are reaching out to the Chinese research community with great news: we are partnering with key companies and institutions in China to...

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GATK v3.8 install

hello,I install the GATK 3.8,and then give me it : # tar: Ignoring unknown extended header keyword LIBARCHIVE.creationtime' tar: Ignoring unknown extended header keyword SCHILY.dev' tar: Ignoring...

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GenotypeGVCFs variant IDs

Hi there, I am trying to use GenotypeGVCFs to perform joint genotyping on 16 samples. These 16 samples were sequenced twice on two different machines, so I actually have 32 readsets. I called variants...

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obsolete index parameters

Hello, We have a bunch of gVCFs created with an older version, when the flags -variant_index_type LINEAR -variant_index_parameter 128000 --filter_mismatching_base_and_quals were still necessary for...

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GATK4 MuTect2 passing germline events?

Dear GATK team, I have been experimenting with calling somatic variants in my tumor/normal WES data using GATK4 MuTect2. After calling and filtering, I found many sites (mostly indels and MNP indels)...

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(How to) Generate an unmapped BAM from FASTQ or aligned BAM

Here we outline how to generate an unmapped BAM (uBAM) from either a FASTQ or aligned BAM file. We use Picard's FastqToSam to convert a FASTQ (Option A) or Picard's RevertSam to convert an aligned BAM...

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