Quest to a perfect (NGS) production pipeline

Quest to a perfect (NGS)
production pipeline
Mateusz Kuzak (eScienceCenter/UvA)
Wibowo Arindrarto (LUMC)
Peter van `t Hof (LUMC)
Leon Mei (LUMC)
…...
Agenda
Cluster: LUMC (SGE),
UMCG (PBS), WUR
(SLURM), UMCU
(SGE), KeyGene (?)
Server: ErasmusMC,
AMC, VUMC, UMCN,
UMCM
Cloud, Grid, Clusters
at SURFsara
NGS groups &
Infrastructure
Pipeline
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set of subsequent analysis steps
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output of one step is input for next one
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input – raw data
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output – alignments, cont tables, visualizations
Perfect pipeline
Sustainable good support and reliable community
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Robust can rerun part of the pipeline
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Scalable utilize multiple cores (in a cluster)
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Modular and no boiler plate code swap in/out similar
components (e.g. switching aligners), modules can be written in
different languages
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Portable can easily run on a different site
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Transparent control directly manage script, file location and
change parameters
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User friendliness defining jobs and setting parameters should be
done via an easy to read file format (e.g. YAML)
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Provenance explicit tracking of all scripts and options used,
executed steps for report generation or monitoring using a
webpage
...
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Options
MOA command-line workflows for bioinformatics
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Ruffus light-weight Python Computational Pipeline Management
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GNU make standard unix build tool
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Snakemake python based language (DSL)
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Bpipe Java and Groovy-based tool
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Bcbio-nextgen community based (Blue Collar Bioinformatics)
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Molgenis-compute local expertise
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GATK queue Scala based pipeline
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Galaxy GUI, active community
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Further possibilities new initiatives from open source community,
scientific workflow projects
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GATK queue #1
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java -jar Queue.jar -S <script>.scala
java -Djava.io.tmpdir=tmp -jar Queue.jar -S ExampleCountReads.scala
-R exampleFASTA.fasta -I exampleBAM.bam -run
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MIT license, made in Broad, roadmap is unclear
Use DRMAA (native support to LSF, Grid Engine, batches available for
PBS, condor, etc)
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can visualize pipeline into a dot graph
GATK queue #2
GATK queue #3
Agenda

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