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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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Show all All Planned Not planned Completed Answered No status Sort by newest post Newest post Recent activity Votes Comments
  • How to set neutral-segment-copy-ratio for somatic CNV calling
    • Bilyana Stoilova
    • April 14, 2020 11:14
    0 votes 5 comments
  • Funcotator b37 and hg19 contig compatibility issue
    • Thomas Pincez
    • April 09, 2020 18:22
    0 votes 5 comments
  • Singularity Modifications to wdl file
    • Shannon Soucy
    • April 08, 2020 17:29
    0 votes 1 comment
  • (GATK v4.1.6.0) Mutect2 bamout reports fewer reads than VCF AD
    • Alijah O'Connor
    • April 03, 2020 17:35
    • Edited
    0 votes 1 comment
  • CNV not called in some samples
    • Kate Megquier
    • March 31, 2020 17:14
    0 votes 4 comments
  • Picard Liftover hg38 to hg19 Error. Answered
    • Wu, Tsung-Jung
    • March 31, 2020 10:18
    • Edited
    0 votes 13 comments
  • FilterMutectCalls htsjdk.tribble.TribbleException$MalformedFeatureFile: Unable to parse header with error: Invalid GZIP header
    • Jenifer
    • March 30, 2020 17:50
    0 votes 1 comment
  • Somatic mosaic variants
    • Laura Collins
    • March 30, 2020 09:34
    0 votes 1 comment
  • Chromosome name of db SNP hg38 build for Funcotator
    • Apprentice
    • March 29, 2020 08:49
    • Edited
    0 votes 4 comments
  • BaseRecalibrator raised htsjdk.tribble.TribbleException$MalformedFeatureFile
    • wenh06
    • March 28, 2020 08:41
    0 votes 12 comments
  • Mutect2 not calling a 4-bp deletion in BRCA1 with 50% AF
    • mack812
    • March 23, 2020 09:00
    • Edited
    0 votes 7 comments
  • Combining gVCFs containing MNPs is not supported for Ploidy Samples
    • Lauren Audi
    • March 23, 2020 05:16
    0 votes 4 comments
  • Calling somatic multi-nucleotide polymorphisms with Mutect2
    • Dilys Weijers
    • March 18, 2020 16:33
    0 votes 3 comments
  • Mutect2 filter somatic mutations as multiallelic and clustered_events
    • Nesrine
    • March 18, 2020 13:32
    0 votes 2 comments
  • GenomeSTRiP SVGenotyping script and alt allele alignment
    • Thandeka
    • March 18, 2020 13:14
    0 votes 4 comments
  • Same fastqs and pipeline get different results
    • Wei
    • March 18, 2020 06:15
    0 votes 2 comments
  • GATK4.1.5 mutect2 output issue
    • Xin Zheng
    • March 17, 2020 06:32
    • Edited
    0 votes 5 comments
  • Somatic CNV hypersegmentation introduced by PoN
    • Romanos Sklavenitis Pistofidis
    • March 13, 2020 20:40
    0 votes 4 comments
  • Parameter tuning in Mutect2
    • Ajit Johnson Nirmal
    • March 11, 2020 14:37
    0 votes 1 comment
  • Funcotator: VCF output
    • TMB
    • March 10, 2020 23:58
    0 votes 2 comments
  • Interpretting CrosscheckFingerprints metrics
    • Alijah O'Connor
    • March 10, 2020 22:00
    0 votes 12 comments
  • Mutect2 include MNPs
    • L. A. Liggett
    • March 10, 2020 17:24
    0 votes 5 comments
  • Panel of Normals index files not found
    • L. A. Liggett
    • March 10, 2020 02:35
    0 votes 1 comment
  • Stalled Shards
    • L. A. Liggett
    • March 09, 2020 19:22
    0 votes 1 comment
  • Mutect2 - Bad input: GenomicsDBImport does not support GVCFs with MNPs
    • Anish Bhaswanth
    • March 09, 2020 14:48
    0 votes 1 comment
  • How to compensate for absence of normals for few samples?
    • rohit satyam
    • March 09, 2020 05:50
    0 votes 2 comments
  • Output files can't be found
    • L. A. Liggett
    • March 07, 2020 23:37
    0 votes 6 comments
  • Scatter Count recommendations
    • Alijah O'Connor
    • March 04, 2020 20:50
    • Edited
    0 votes 1 comment
  • about Mutect2 usage
    • Sukjung Choi
    • March 04, 2020 07:43
    0 votes 3 comments
  • gnomAD version in Mutect2 bundle
    • Guruprasad Ananda
    • March 03, 2020 20:28
    0 votes 4 comments
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