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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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  • PoN: Mutect2 error
    • manolis
    • May 13, 2020 04:34
    0 votes 7 comments
  • SplitIntervals Random or Not?
    • vctrymao
    • May 12, 2020 17:31
    0 votes 2 comments
  • Using LearnReadOrientationModel produces new mutations?
    • vctrymao
    • May 11, 2020 22:55
    0 votes 2 comments
  • Where are LearnReadOrientationModel docs?
    • vctrymao
    • May 11, 2020 18:48
    0 votes 2 comments
  • Best practice to process a multisample mutect2 vcf
    • Jenifer
    • May 11, 2020 16:59
    0 votes 2 comments
  • java.lang.IllegalArgumentException: Invalid interval. Contig:chr1 start:-9 end:10464
    • Jay Singh
    • May 09, 2020 12:47
    0 votes 8 comments
  • Mutect2 Questions
    • Joseph Ong
    • May 08, 2020 23:05
    0 votes 4 comments
  • CNV Discovery pipeline error
    • Thandeka
    • May 08, 2020 18:14
    0 votes 1 comment
  • Mutect2 Tumor-only calling of variants with high AF?
    • Brian Haas
    • May 05, 2020 12:32
    0 votes 3 comments
  • Mutect2 - issue with long scaffolds (non-human/mouse)
    • Yuanyuan Cheng
    • May 04, 2020 00:32
    0 votes 2 comments
  • Parallelizing Mutect2
    • vctrymao
    • May 01, 2020 20:26
    0 votes 10 comments
  • Different read statistics for a common control sample in two Mutect2 runs
    • Roman Jaksik
    • May 01, 2020 11:00
    0 votes 2 comments
  • FilterAlignmentArtifacts error
    • Nicola Dick
    • May 02, 2020 16:09
    • Edited
    0 votes 4 comments
  • HaplotypeCaller fails with Exit code 3, but no further information is given
    • Louisa Normington
    • April 29, 2020 19:24
    • Edited
    0 votes 3 comments
  • Mutect2 MISSING Low Frequency key (TP53 and KRAS) mutations
    • Saba
    • April 29, 2020 15:54
    • Edited
    1 vote 15 comments
  • Mutect2 PoN allele-specific or less specific position-based?
    • Brian Haas
    • April 29, 2020 15:16
    0 votes 2 comments
  • Current Mutect2 somatic variant PoN logic
    • Brian Haas
    • April 29, 2020 15:15
    0 votes 3 comments
  • GenomicsDBImport throw "no tiledbgenomicsdb in java.library.path" error
    • Su Na
    • April 29, 2020 02:55
    0 votes 3 comments
  • Somatic copy ratio alterations in benign case samples
    • Gannon Cottone
    • April 28, 2020 14:21
    0 votes 4 comments
  • Error running GATK CNV PoN workflow
    • Yifat Geffen
    • April 28, 2020 14:09
    0 votes 5 comments
  • Mutect2 somatic mutation identification stopped
    • Yuan Feng
    • April 27, 2020 16:57
    0 votes 1 comment
  • Difference between and strict_strand strand bias in vcf files generated by FilterMutectCalls
    • Leo Hsiao
    • April 24, 2020 12:11
    0 votes 1 comment
  • Mutect2
    • vctrymao
    • April 22, 2020 01:25
    0 votes 1 comment
  • variant calling analysis for fanconi anaemia
    • Shubhada Kale
    • April 18, 2020 10:26
    0 votes 1 comment
  • HaplotypeCaller get error, but VCF get indexed
    • Shuoguo Wang
    • April 16, 2020 22:41
    0 votes 1 comment
  • GATK doesn't find the MuTect2 tool?
    • Nicola Dick
    • April 16, 2020 10:13
    0 votes 7 comments
  • Contamination calculated with and without matched-normal differ from each other
    • Pubudu Saneth Samarakoon
    • April 15, 2020 08:31
    0 votes 2 comments
  • GATK4: RNAseq short variant discovery (SNPs + Indels)
    • bsmith030465
    • April 15, 2020 12:38
    • Edited
    0 votes 3 comments
  • Mutect2 guide for multiple lanes?
    • vctrymao
    • April 14, 2020 15:30
    0 votes 2 comments
  • Forced calling of somatic variants reveals variants with label PASS
    • Daniel von Rhein
    • April 14, 2020 11:44
    0 votes 1 comment
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