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Short Description
Validated, scalable, community developed variant calling, RNA-seq and small RNA analysis
Full Description

.. image:: artwork/github.png
:alt: bcbio banner
:align: center

Validated, scalable, community developed variant calling, RNA-seq and small RNA
analysis. You write a high level configuration file specifying your inputs and
analysis parameters. This input drives a parallel run that handles distributed
execution, idempotent processing restarts and safe transactional steps. bcbio
provides a shared community resource that handles the data processing component
of sequencing analysis, providing researchers with more time to focus on the
downstream biology.

.. image::


  • Community developed: We welcome contributors with the goal of
    overcoming the biological, algorithmic and computational challenges
    that face individual developers working on complex pipelines in
    quickly changing research areas. See our users page_ for examples
    of bcbio-nextgen deployments, and the developer documentation_ for
    tips on contributing.

  • Installation: A single installer script_ prepares all
    third party software, data libraries and system configuration files.

  • Automated validation_: Compare variant calls against common reference
    materials or sample specific SNP arrays to ensure call correctness.
    Incorporation of multiple approaches for alignment, preparation and
    variant calling enable unbiased comparisons of algorithms.

  • Distributed: Focus on parallel analysis and scaling_ to handle
    large population studies and whole genome analysis. Runs on single
    multicore computers, in compute clusters using IPython parallel,
    or on the Amazon cloud. See the parallel documentation
    for full

  • Multiple analysis algorithms: bcbio-nextgen provides configurable
    variant calling, RNA-seq and small RNA pipelines_.

.. _IPython parallel:
.. _parallel documentation:
.. _A single installer script:
.. _users page:
.. _developer documentation:
.. _variant calling, RNA-seq and small RNA pipelines:
.. _parallel analysis and scaling:
.. _Automated validation:

Quick start

  1. Install_ bcbio-nextgen with all tool dependencies and data files::

      python /usr/local/share/bcbio --tooldir=/usr/local \
        --genomes GRCh37 --aligners bwa --aligners bowtie2

    producing an editable system configuration file_ referencing the installed
    software, data and system information.

  2. Automatically create a processing description_ of sample FASTQ and BAM files
    from your project, and a CSV file of sample metadata:: -w template freebayes-variant project1.csv sample1.bam sample2_1.fq sample2_2.fq

    This produces a sample description file_ containing pipeline configuration options_.

  3. Run analysis, distributed across 8 local cores::

      cd project1/work ../config/project1.yaml -n 8

.. _system configuration file:
.. _sample description file:
.. _Automatically create a processing description:
.. _Install:
.. _configuration options:


See the full documentation_ and longer analysis-based articles <>. We welcome enhancements or problem reports using GitHub
and discussion on the biovalidation mailing list_.

.. _full documentation:
.. _GitHub:
.. _biovalidation mailing list:


  • Miika Ahdesmaki_, AstraZeneca
  • Luca Beltrame_, IRCCS "Mario Negri" Institute for Pharmacological Research, Milan, Italy
  • Christian Brueffer_, Lund University, Lund, Sweden
  • Alla Bushoy_, AstraZeneca
  • Guillermo Carrasco_, Science for Life Laboratory, Stockholm
  • Nick Carriero <>_, Simons Foundation
  • Brad Chapman_, Harvard Chan Bioinformatics Core
  • Saket Choudhary_, University Of Southern California
  • Peter Cock_, The James Hutton Institute
  • Matthias De Smet <>_, Center for Medical Genetics, Ghent University Hospital, Belgium
  • Matt Edwards_, MIT
  • Mario Giovacchini_, Science for Life Laboratory, Stockholm
  • Karl Gutwin <>_, Biogen
  • Jeff Hammerbacher_, Icahn School of Medicine at Mount Sinai
  • Oliver Hofmann <>_, University of Melbourne Centre for Cancer Research
  • John Kern <>_
  • Rory Kirchner_, Harvard Chan Bioinformatics Core
  • Tetiana Khotiainsteva <>_, Ardigen
  • Jakub Nowacki_, AstraZeneca
  • John Morrissey <>_, Harvard Chan Bioinformatics Core
  • Lorena Pantano <>_, Harvard Chan Bioinformatics Core
  • Brent Pedersen_, University of Colorado Denver
  • James Porter_, The University of Chicago
  • Valentine Svensson_, Science for Life Laboratory, Stockholm
  • Paul Tang_, UCSF
  • Stephen Turner_, University of Virginia
  • Roman Valls_, Science for Life Laboratory, Stockholm
  • Kevin Ying_, Garvan Institute of Medical Research, Sydney, Australia
  • Vlad Saveliev_, Center for Algorithmic Biotechnology, St. Petersburg University

.. _Miika Ahdesmaki:
.. _Luca Beltrame:
.. _Christian Brueffer:
.. _Guillermo Carrasco:
.. _Alla Bushoy:
.. _Brad Chapman:
.. _Peter Cock:
.. _Mario Giovacchini:
.. _Rory Kirchner:
.. _Jakub Nowacki:
.. _Brent Pedersen:
.. _James Porter:
.. _Valentine Svensson:
.. _Paul Tang:
.. _Stephen Turner:
.. _Roman Valls:
.. _Kevin Ying:
.. _Jeff Hammerbacher:
.. _Matt Edwards:
.. _Saket Choudhary:
.. _Vlad Saveliev:


The code is freely available under the MIT license_.

.. _MIT license:

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