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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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New User Advice

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Show all All Planned Not planned Completed Answered No status Sort by newest post Newest post Recent activity Votes Comments
  • A USER ERROR has occurred: Contig chr1_KI270762v1_alt not present in reads sequence dictionary Answered
    • Maha Tageldein
    • June 06, 2022 05:03
    0 votes 5 comments
  • GenomicsDBImport - why "intervals" is required?? Answered
    • Jianying Li
    • May 25, 2022 00:39
    0 votes 3 comments
  • Gatk4 rnaseq germline snps indels json file
    • Alan Foley
    • May 19, 2022 10:29
    • Edited
    0 votes 1 comment
  • Variant Quality Score Recalibration
    • Jakub S
    • May 09, 2022 15:27
    0 votes 3 comments
  • How to use WGA Data in picard Answered
    • Marcus Varni
    • May 03, 2022 23:13
    0 votes 3 comments
  • Suggestions to find pathogenic variant Answered
    • Joyce Anon
    • May 03, 2022 20:57
    0 votes 4 comments
  • Cromwell configuration problem: "No configuration setting found for key 'job-id-regex'"
    • Joel Wallenius
    • May 02, 2022 10:38
    0 votes 1 comment
  • Error, ShouldNeverReachHereException, FuncotationMap in FilterFuncotations Answered
    • Joyce Anon
    • April 25, 2022 06:30
    0 votes 17 comments
  • GATK working, but -ERC command not found Answered
    • Ann W
    • April 12, 2022 15:06
    0 votes 3 comments
  • Somatic mutation detection in HLA regions using hg38 alt-aware alignments Answered
    • Elisabetta Manduchi
    • April 12, 2022 15:00
    0 votes 2 comments
  • ReadsPipelineSparkMulticore.wdl, Unrecognized runtime attribute keys: discs, cpu Answered
    • Andrew Erzunov
    • April 19, 2022 20:40
    • Edited
    0 votes 13 comments
  • Proper references for mutec2 working in tumour-only mode Answered
    • Dr Andrzej Kubiak
    • April 05, 2022 11:21
    0 votes 1 comment
  • Estimate genotype proportions from filtered variants
    • Daniel Castañeda Mogollón
    • April 05, 2022 05:49
    0 votes 5 comments
  • Discordance genotyping Answered
    • PierreJus
    • March 28, 2022 20:31
    0 votes 1 comment
  • Picard CrosscheckFingerprints not identifying samples from the same individual as a MATCH Answered
    • Christopher Sisk
    • March 23, 2022 15:01
    0 votes 1 comment
  • WARN InbreedingCoeff - InbreedingCoeff will not be calculated at position chr1:40 and possibly subsequent; at least 10 samples must have called genotypes Answered
    • Dina Tzur
    • March 13, 2022 16:46
    0 votes 3 comments
  • GATK MarkDuplicatesSpark output error Answered
    • Bilge Tabak
    • March 11, 2022 17:39
    0 votes 3 comments
  • How to provide custom exon-intron annotation source in Funcotator
    • Elisabetta Manduchi
    • February 18, 2022 13:48
    0 votes 4 comments
  • AbstractOpticalDuplicateFinderCommandLineProgram Default READ_NAME_REGEX '<optimized capture of last three': 'separated fields as numeric values>' did not match read name '2hpf_wt_total_SRR870747.42096'. Answered
    • Dina Tzur
    • February 06, 2022 12:01
    0 votes 11 comments
  • What should I do with vcf file now Answered
    • mina ming
    • February 03, 2022 13:20
    • Edited
    0 votes 1 comment
  • ApplyBQSR for somatic mutation detection in HLA regions Answered
    • Elisabetta Manduchi
    • February 01, 2022 17:07
    0 votes 7 comments
  • Where is my GATK4 ? Answered
    • MianQi
    • December 20, 2021 10:15
    • Edited
    0 votes 1 comment
  • Pileup output of GATK4 vs. GATK3 Answered
    • Ran Wei
    • December 02, 2021 01:37
    0 votes 1 comment
  • bash: gatk: command not found Answered
    • Jeremy Sutherland
    • December 01, 2021 19:20
    0 votes 2 comments
  • GATK GenomicsDBImport intervals Answered
    • Bekah W
    • November 26, 2021 14:23
    0 votes 19 comments
  • rename sample in GVCF file Answered
    • Bekah W
    • November 23, 2021 22:08
    0 votes 3 comments
  • GenotypeGVCFs produces bizarre mapping quality distribution
    • Daniel Nondorf
    • November 18, 2021 16:49
    0 votes 1 comment
  • GATK Non-model organism variant call SNP site all MQ same value
    • Bekah W
    • November 13, 2021 14:02
    0 votes 1 comment
  • MarkDuplicates analysis of large wheat chromosomes Answered
    • John Baison
    • November 11, 2021 11:54
    0 votes 1 comment
  • ApplyBQSR doesn't recognise my arguments? Answered
    • Ali Hudson
    • November 10, 2021 15:55
    • Edited
    0 votes 3 comments
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