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Genome Analysis Toolkit

Variant Discovery in High-Throughput Sequencing Data

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Developed in the Data Sciences Platform at the Broad Institute, the toolkit offers a wide variety of tools with a primary focus on variant discovery and genotyping. Its powerful processing engine and high-performance computing features make it capable of taking on projects of any size. Learn more

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Show all All Planned Not planned Completed Answered No status Sort by comments Newest post Recent activity Votes Comments
  • CNNScoreVariants error: AttributeError: 'str' object has no attribute 'decode'
    • WKaiser
    • November 19, 2020 10:23
    • Edited
    0 votes 9 comments
  • Clear missing variant from HaplotypeCaller
    • Edu Andrés León
    • October 15, 2020 10:26
    • Edited
    0 votes 9 comments
  • Genomestrip cannot find --ploidyMapFile
    • Swanthana Rekulapally
    • June 11, 2020 20:23
    0 votes 9 comments
  • Recal file with malformed header
    • Erik Fasterius
    • May 14, 2020 09:43
    0 votes 9 comments
  • GenotypeGVCFs: java.lang.NullPointerException
    • Anze Staric
    • March 30, 2020 11:28
    0 votes 9 comments
  • MarkDuplicatesSpark crash
    • David Gómez-Sánchez
    • January 07, 2020 17:02
    1 vote 9 comments
  • Can't explain the number of reads FilterSamReads outputs Answered
    • Aki Jarl Laruson
    • July 28, 2021 23:29
    0 votes 8 comments
  • sample_gender.report.txt is empty when running SVpreprocess restricted to chromosomes
    • zzq
    • April 16, 2021 11:52
    • Edited
    0 votes 8 comments
  • GermlineCNVCaller edge case?
    • SkyWarrior
    • December 02, 2020 05:52
    • Edited
    0 votes 8 comments
  • IlluminaBasecallsToSam: How do I specify one unique RGID per output uBAM?
    • ISmolicz
    • November 09, 2020 14:14
    0 votes 8 comments
  • GenomicsDBImport running out of memory?
    • Ivan
    • October 28, 2020 11:14
    0 votes 8 comments
  • Error in running SplitNCigarReads - htsjdk.samtools.util.RuntimeIOException Answered
    • KATHIE NGO
    • August 27, 2020 17:31
    • Edited
    0 votes 8 comments
  • SelectVariants v4.1.6.0 doesn't select the variants as expected Answered
    • ABours
    • June 02, 2020 13:26
    0 votes 8 comments
  • newbie question: how to split a genome bam file by using picard
    • You Meng
    • May 30, 2020 10:00
    0 votes 8 comments
  • Unable to replicate the spanning deletions documentation
    • Saurabh Parikh
    • April 27, 2020 01:55
    • Edited
    0 votes 8 comments
  • GenomeSTRiP ReciprocalOverlapAnnotator Annotation track not sorted
    • Asma Riyaz
    • March 29, 2020 21:34
    • Edited
    0 votes 8 comments
  • AS_MQRanksum craches R script VQSR
    • timh
    • January 23, 2020 12:08
    0 votes 8 comments
  • Contamination calculation on single file don't detect contaminated samples Answered
    • Vladislav Maximov
    • October 14, 2021 15:03
    0 votes 7 comments
  • SplitNCigarReads does not seem to split reads properly as it was before 3.8-1?
    • SkyWarrior
    • June 21, 2021 13:29
    • Edited
    0 votes 7 comments
  • DepthOfCoverage with -gene-list and readgroup as --partition-type options Answered
    • David Jaspez
    • May 06, 2021 14:58
    0 votes 7 comments
  • ApplyBQSR no positional argument is defined for this tool Answered
    • Jose Aragon
    • March 06, 2021 14:26
    0 votes 7 comments
  • Comparison between ReadsPipelineSpark and MarkDuplicates
    • AMN
    • January 20, 2021 00:36
    • Edited
    0 votes 7 comments
  • Resource bundle error download
    • Linda Do
    • November 05, 2020 18:09
    • Edited
    0 votes 7 comments
  • Empty VCF file from Mutect2 v. GATK 4.1.6.0 in tumor only mode
    • P M
    • September 29, 2020 02:43
    0 votes 7 comments
  • error in GATK mitochondria pipeline
    • CenLiau
    • August 12, 2020 21:23
    0 votes 7 comments
  • run SVPreprocess and SVGenotyper for each sample
    • zzq
    • July 16, 2020 04:10
    0 votes 7 comments
  • Read Group: ID for split files of multiple samples on multiple lanes
    • Himawari
    • April 28, 2020 07:34
    • Edited
    0 votes 7 comments
  • HaplotypeCaller bam file path not recognized
    • Phillip Morin - NOAA Federal
    • March 13, 2020 18:42
    0 votes 7 comments
  • ValidateSamFile behavior
    • Robert Edgar
    • February 17, 2020 18:07
    1 vote 7 comments
  • CNNScoreVariants Issues with environment and Java version Answered
    • Kathrin B
    • April 13, 2022 15:07
    • Edited
    0 votes 6 comments
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