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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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Documentation Questions

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  • GATK Best Practices Mitochondrial Analysis Answered
    • ajwils
    • January 09, 2020 21:15
    • Edited
    1 vote 45 comments
  • mutect2 multi-sample Answered
    • zhao shilin
    • May 07, 2020 17:27
    • Edited
    0 votes 35 comments
  • QualByDepth documentation issue Answered
    • Uday Evani
    • September 09, 2020 21:38
    0 votes 18 comments
  • CollectAllelicCounts interval_list Answered
    • jejacobs23
    • May 18, 2020 22:33
    1 vote 15 comments
  • GenotypeGVCFs only accepts single combinedGVCF? CombineGVCFs & genomicsdb errors... .interval_list subset Answered
    • Mingzhou Fu
    • July 29, 2021 22:42
    0 votes 12 comments
  • How does Mutect2 count read depth/coverage? Answered
    • Sameer Shankar
    • February 16, 2023 20:40
    1 vote 11 comments
  • haplotypeCaller phasing Answered
    • Jeremie Kalfon
    • October 05, 2021 15:07
    • Edited
    0 votes 11 comments
  • Interpretation of gene_summary output from DepthofCoverage Answered
    • neethukrishna Kausthubham
    • August 26, 2021 11:08
    0 votes 11 comments
  • Germline sites in Mutect2 Answered
    • G E
    • March 19, 2021 04:39
    • Edited
    0 votes 11 comments
  • germline-resource Answered
    • Juechen Yang
    • March 17, 2020 17:32
    0 votes 10 comments
  • GenomAD files for MuTect2 Answered
    • Felix
    • May 06, 2020 10:18
    0 votes 9 comments
  • GenomicsDBImport -L [string] (but for the whole genome): purpose to generate invariant sites Answered
    • Pete Thorpe
    • January 20, 2022 08:51
    0 votes 8 comments
  • Difference between GATK Germline CNV Pipeline vs Genome STRiP? Answered
    • Muhammad Shoaib Akhtar
    • October 29, 2020 08:49
    0 votes 8 comments
  • Documentation for running GATK and Cromwell on IBM Cloud Answered
    • Takeshi Yoshimura
    • April 05, 2022 01:24
    1 vote 7 comments
  • picard sortvcf: what does it do? Answered
    • Thomas Juettemann
    • November 09, 2021 17:31
    0 votes 7 comments
  • FilterFuncotations Duplicate key error Answered
    • Azza Ahmed
    • October 14, 2021 10:53
    0 votes 7 comments
  • Where is the list of annotations and annotation groups? Answered
    • tedtoal
    • July 05, 2021 23:05
    2 votes 7 comments
  • MTLowHeteroplasmyFilterTool documentation Answered
    • jorgez
    • June 11, 2021 12:58
    0 votes 7 comments
  • Calculation method of the global_read_depth.tsv file of the DetermineGermlineContigPloidy tool Answered
    • Tintest
    • May 20, 2021 14:35
    0 votes 7 comments
  • Alt Contig tutorial question Answered
    • Linda Do
    • March 15, 2021 05:22
    0 votes 7 comments
  • Three questions about calling CNV in Germline. Answered
    • rq m
    • March 12, 2021 03:23
    • Edited
    0 votes 7 comments
  • Issues with LiftoverVcf Answered
    • Mohammad Deen Hayatu
    • October 06, 2022 06:43
    0 votes 6 comments
  • SamToFastq - bam order Answered
    • Jakub Savara
    • July 24, 2022 10:48
    0 votes 6 comments
  • GATK GenotypeGVCFs miss a real Insertion Answered
    • touyupang
    • February 18, 2022 07:45
    0 votes 6 comments
  • How to evlauate the result: GenotypeConcordance or Concordance Answered
    • lizhichao
    • February 17, 2022 09:09
    0 votes 6 comments
  • Theorical model for Active region detection Answered
    • Naomie Abecassis
    • June 22, 2021 14:26
    0 votes 6 comments
  • STRANDQ missing from mutect2 vcf records Answered
    • Rebecca Halperin
    • May 12, 2021 19:26
    0 votes 6 comments
  • GATK VariantEval no concordance between dbSNP and our data Answered
    • Pierre_Bioinfo
    • May 03, 2021 07:50
    0 votes 6 comments
  • Calling somatic CNVs Answered
    • Yasin Uzun
    • September 09, 2020 02:34
    0 votes 6 comments
  • use LearnReadOrientationModel to build artifact-prior.tar.gz Answered
    • chenglei
    • September 22, 2021 14:48
    0 votes 5 comments
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