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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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Somatic

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  • Permissions on gs://broad-references
    • dannykwells
    • February 28, 2020 16:52
    0 votes 4 comments
  • Sample intervals must be identical to the original intervals used to build the panel of normals
    • Pedro Miguel Raposo
    • February 28, 2020 13:52
    0 votes 2 comments
  • FilterMutectCalls Error: java.lang.IllegalArgumentException: log10 p: Values must be non-infinite and non-NAN
    • Jared Jurss
    • February 27, 2020 18:13
    0 votes 3 comments
  • Mutect2 does not need normal BAM anymore?
    • Anish Bhaswanth
    • February 27, 2020 16:04
    • Edited
    0 votes 5 comments
  • Mutect2 - somatic variant calling with/without matched normal sample
    • D B
    • February 26, 2020 19:33
    • Edited
    1 vote 14 comments
  • Broad hg38 ICE interval list Answered
    • Chet Birger
    • February 20, 2020 19:16
    3 votes 17 comments
  • UnifiedGenotyper error on Solid data
    • Mariano Avino
    • February 20, 2020 18:41
    • Edited
    0 votes 2 comments
  • Mutect2: Incorrectly computed allelic depths and likely false-positive calls
    • Alexander Dilthey
    • February 20, 2020 16:24
    0 votes 11 comments
  • Mutect2 : annotation group & fields that can check strand bias
    • whynot
    • February 20, 2020 08:27
    0 votes 1 comment
  • MergeBamAlignment Error: ArrayIndexOutOfBoundsException
    • Jared Jurss
    • February 19, 2020 22:02
    1 vote 3 comments
  • Joint calling on individual gvcfs vs merged gvfs
    • gen1234
    • February 19, 2020 18:24
    • Edited
    0 votes 1 comment
  • Wrong Calculation of DP, AD, AF
    • Max Mustermann
    • February 20, 2020 08:11
    • Edited
    0 votes 8 comments
  • alt_allele_in_normal vs normal LOD: Is alt_allele_in_normal redundant?
    • Cheng Yan
    • February 18, 2020 10:08
    • Edited
    0 votes 1 comment
  • Filtering somatic calls from tumor-only variant calling
    • D B
    • February 16, 2020 20:50
    0 votes 3 comments
  • Artefactual calls using Mutect2 on RNAseq data Answered
    • cmartinezruiz
    • February 14, 2020 10:46
    0 votes 25 comments
  • calculateContamination step with multi-tumor samples
    • jungmin choi
    • February 13, 2020 13:15
    0 votes 8 comments
  • FilterMutectCalls does not actually filter mutations. Only flag them.
    • Stefano Confalonieri
    • February 13, 2020 13:17
    • Edited
    0 votes 2 comments
  • java.lang.IllegalArgumentException: Records contained at least one interval that did not validate against the sequence dictionary.
    • Pedro Miguel Raposo
    • February 12, 2020 17:14
    0 votes 2 comments
  • Mutect2 filter : clustered_events definition
    • whynot
    • February 12, 2020 05:08
    0 votes 5 comments
  • Problems combining gVCFs that have thousands of scaffolds
    • Dch
    • February 11, 2020 23:24
    • Edited
    1 vote 5 comments
  • Error in FilterMutectCalls
    • Aditi Kulkarni
    • February 11, 2020 14:55
    0 votes 3 comments
  • Mutect2: STR flag from INFO Field is not applied to multiallelic sites
    • mack812
    • February 11, 2020 11:37
    • Edited
    0 votes 4 comments
  • Having trouble using LiftoverVcf due to value not being in VCF Header
    • A S
    • February 10, 2020 20:31
    • Edited
    0 votes 1 comment
  • Mutect2 variant calling output with tumor and matched normal: 0/1 in all variants called
    • RicPin
    • February 10, 2020 15:41
    • Edited
    0 votes 5 comments
  • Can't use GATK or Picard's LiftoverVcf tool without encountering output format exception
    • A S
    • February 07, 2020 18:12
    • Edited
    0 votes 5 comments
  • JAVA errors from gnomad resource in Mutect2 Answered
    • Akshay Sanghi
    • February 05, 2020 20:02
    0 votes 2 comments
  • Multi-mapping reads causing errors in Mutect2 for RNAseq?
    • cmartinezruiz
    • February 04, 2020 17:15
    0 votes 3 comments
  • HS_PENALTY_20X is -1 on one version of GATK, crashes on newest version.
    • JonR
    • February 04, 2020 20:43
    • Edited
    0 votes 1 comment
  • Installation of GenomeSTRiP on slurm
    • Thandeka
    • February 03, 2020 14:12
    0 votes 6 comments
  • Mutect2 doesn't output normal sample name in VCF?
    • vctrymao
    • January 30, 2020 16:54
    • Edited
    0 votes 3 comments
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