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Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses

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bcbio validations

A collection of validations run using bcbio (Blue Collar Bioinformatics), using this community built collection of validation workflows. This repository organizes validation interpretation done as part of developing and improving analyses. Many previous validations are also available in these albums.

We're happy to answer questions about any validations, most are works in progress. We typically write up more details on finalized runs to share more widely.

  • gatk4 -- Comparisons with the new open source GATK4.
  • freebayes -- Version updates and filter changes with FreeBayes.
  • deepvariant -- Validations with the DeepVariant caller and CHM datasets.
  • somatic-lowfreq -- Cancer calling of low frequency somatic variants, including tumor-only and FFPE samples.
  • huref_sv -- SV calling validation of 8 algorithms in 2018 and 2019 using HuRef benchmark.

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Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses

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