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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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Show all All Planned Not planned Completed Answered No status Sort by comments Newest post Recent activity Votes Comments
  • ValidateSamFile behavior
    • Robert Edgar
    • February 17, 2020 18:07
    1 vote 7 comments
  • Accessing the resource bundle. Answered
    • nagam surya
    • June 28, 2022 18:35
    0 votes 6 comments
  • CNNScoreVariants Issues with environment and Java version Answered
    • Kathrin B
    • April 13, 2022 15:07
    • Edited
    0 votes 6 comments
  • Error in GenomicsDBImport: Invalid deflate block found Answered
    • Lauren Hennelly
    • February 26, 2022 20:26
    1 vote 6 comments
  • GenomincsDBImport Failed to create reader from file: An index is required, but none found., for input source: Answered
    • Morgan Sparks
    • October 12, 2021 11:46
    0 votes 6 comments
  • Truncated bam file after running ReplaceSamHeader(Picard) Answered
    • kostas alexiou
    • November 17, 2020 15:12
    0 votes 6 comments
  • Dosages with Mutect2
    • Leore Nehemie Bensabath
    • July 24, 2020 08:36
    0 votes 6 comments
  • RemoveNearbyIndels: CRSP
    • Andrew Zhang
    • May 13, 2020 06:49
    0 votes 6 comments
  • How to set a COMPRESSION_LEVEL of ApplyBQSR
    • Nickier
    • April 26, 2020 10:34
    0 votes 6 comments
  • jar for mutect 1.1.7
    • Knight Ni
    • April 19, 2020 17:08
    1 vote 6 comments
  • User error: input files reference and features have incompatible contigs
    • mons7re
    • February 14, 2020 14:12
    0 votes 6 comments
  • PathseqPipelineSpark stops without error message
    • vitor heidrich
    • February 07, 2020 00:44
    0 votes 6 comments
  • options used during base recalibration
    • janick mathys
    • January 30, 2020 12:36
    0 votes 6 comments
  • CombineGVCFs - possible to restart/continue run?
    • medgen
    • October 11, 2022 14:01
    0 votes 5 comments
  • FindBadGenomicKmersSpark running indefinitely Answered
    • Cher Wei Yuan
    • August 02, 2022 02:25
    0 votes 5 comments
  • Hard filters on VariantFiltration following HaplotypeCaller; Filter contains an illegal character Answered
    • Graeme Thorn
    • May 27, 2022 21:05
    • Edited
    0 votes 5 comments
  • GC overhead limit exceeded using Mutect2 only tumor version Answered
    • Shirliya Dadon
    • February 09, 2022 12:53
    • Edited
    0 votes 5 comments
  • CollectRnaSeqMetrics GL000220 test not counting ribosomal reads Answered
    • rcorbett
    • December 06, 2021 18:45
    0 votes 5 comments
  • MarkduplicatesSpark failed Answered
    • lid.zigh
    • November 23, 2021 13:44
    0 votes 5 comments
  • HaplotypeCaller inconsistency with different interval lists
    • Gytis Mackevičius
    • September 10, 2021 05:53
    • Edited
    0 votes 5 comments
  • My recalibration table from BaseRecalibrator is empty
    • Calum Tattersfield
    • August 25, 2021 18:14
    • Edited
    0 votes 5 comments
  • HaplotypeCaller - Shutting down engine - Encountering a large genome
    • zyw
    • December 07, 2020 02:27
    0 votes 5 comments
  • SVDiscovery OutOfMemoryError.
    • latte kim
    • December 01, 2020 07:56
    0 votes 5 comments
  • -DepthOfCoverage-ct not working in GATK 4.1.8.1
    • Wei
    • November 30, 2020 23:00
    0 votes 5 comments
  • ReciprocalOverlapAnnotator error for Illumina data (both ERDS and CNVnator)
    • Ghausia Begum
    • June 04, 2020 04:22
    0 votes 5 comments
  • Problem Installing and testing GATK-4.1.7.0
    • Arjun Upadhaya
    • May 04, 2020 06:34
    1 vote 5 comments
  • GATK Runtime Error 3.8
    • Nicholas Cho Rui Wen
    • April 09, 2020 10:35
    0 votes 5 comments
  • Dockerfile for genomes-in-the-cloud
    • Tony Bendis
    • March 10, 2020 05:16
    0 votes 5 comments
  • Fail to set up conda environment for GATK with the gatkcondaenv.yml file
    • fanwayne
    • February 24, 2020 12:16
    0 votes 5 comments
  • Problem running GenomeSTRiP CNVDiscovery on X chromosome
    • Laura Cottino
    • February 18, 2020 09:00
    0 votes 5 comments
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