New blogs

Functional Genomics project joined the wiki

See FgStart

• Posted: 11 years ago
• Author: Morris Swertz
• Categories: (none)
• Comments (0)

e-BioGrid project for biobanking started

We have proudly joined the ​e-BioGrid project on a mission to bring nation-wide IT infrastructure for large scale biobanking. First goal is building a model infrastructure for the Dutch Biobank community, BBMRI-NL, that manage ...

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• Posted: 13 years ago
• Author: Morris Swertz
• Categories: eBiobank
• Comments (0)

Proposed Quality Control.

Pre-alignment:

• Duplicate input checking.
• Quality scores histogram from the BGI.
  • Maybe other graphs/data provided by the BGI.
• Quality scores with the FastqC toolkit.
  • GC content.
  • Quality scores per base.
  • Quality scores per ...

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• Posted: 14 years ago
• Author: J. F. J. Laros
• Categories: (none)
• Comments (0)

Hackathon on pipelines, grid and QC

Yesterday we had a succesfull joint hackathon in Haren accross BBMRI-NL bioinformatics and NBIC biobank and next generation sequencing task forces. Representatives were there from UMCG, AMC, LUMC and NBIC as well as guests of the local genomics coord ...

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• Posted: 14 years ago (Updated: 14 years ago)
• Author: Morris Swertz
• Categories: (none)
• Comments (0)

First raw reads in; Freerk and Morris go to Boston to get GATK running

The first two trio data has been downloaded from BGI. Meanwhile BGI is running the basic analysis, i.e., variant calling on the whole batch. Freerk and Morris went to Boston to learn how to do the same procedure but then using GATK. Hopefully by end ...

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• Posted: 14 years ago (Updated: 14 years ago)
• Author: Morris Swertz
• Categories: (none)
• Comments (0)

Welcome to the BBMRI/GvNL 'bionformatics for biobanking' wiki

This is the wiki for the BBMRI-NL bioinformatics and GvNL analysis working groups.

• See MeetingMinutes - minutes of our Skype meetings
• See ProjectOverview - description of the bioinformatics regenboog
• See DataAnalysisPlan - description of the GvNL analysis objectives
• See WorkPlan - description of the current planning
• See ReadingMaterials - for recommended powerpoints and papers
• Join our ​mailing list

Projects and pipelines:

• Sequence analysis (WP1)
  • SchematicOverview - overview of the pipelines needed
  • SnpCallingPipeline - description of the variation analysis pipeline (UMCG)
  • CoverageAnalysisPipeline - description of the coverage analysis pipeline (AMC)
  • ChipBasedQcPipeline - description of the chip data comparison QC pipeline (EMC)
  • MendelianQcPipeline - description of the mendelian check pipeline (EMC)
  • DeNovoVariationPipeline - finding de novo variations in the GvNL data (LUMC)
  • TrioAwareVariantDiscoveryPipeline? - Trio-aware variant discovery and genotype calling pipeline (UU)
  • GenomeViewer? - view read and snp data in their genomic context, e.g. using IGV
• Genotype analysis and imputation (WP2)
  • TrioAwarePhasingPipeline - phasing the individuals using trio information (EMC)
  • SnpAnnotationPipeline - annotating SNPs with known functional information (LUMC,UMCG)
  • ImputationPipeline - description of the imputation pipeline (VU,UMCG)
• Catalogue and search of biobanks (WP3)
  • ​Connecting biobanks Hackaton - in collaboration with NBIC
• Genomic biobank IT infrastructure (WP4)
  • DataManagement - how we use MOLGENIS to track/trace data and tools (UMCG)
  • WorkflowTools - how to configure, manage and run pipelines (UMCG)
  • SequenceBIMS - to have report on samples, raw/intermediate/result data and processing pipelines run
  • GwasBIMS - to have report on samples, imputation runs and results
  • ApplyForDataTool? - to provide researchers with a way to request access to BBMRI-NL data sets
  • BigStorage? - how we store the NGS and GWAS data (UMCG,SARA,CIT)
  • BigCompute - how we will enable the pipelines on grids and clusters (UMCG,SARA,CIT)

*Work organization based on regenboog project. Clearly there is much connection between all work.

Using this wiki

As all Wiki pages, this page is editable, this means that you can modify the contents of this page simply by using your web-browser. Simply click on the "Edit this page" link at the bottom of the page. WikiFormatting will give you a detailed description of available Wiki formatting commands.

On top there is menu with additional features

• Blog - Meetings, events etc can be blogged
• Roadmap - Overview of the main objectives
• Tickets - All our TODO's (per roadmap) we can collect under Tickets
• Browse source - All our scripts we can browsed under Browse Source
• Subversion - Programmers can commit their code using SVN at ​http://gbic.target.rug.nl/bbmri/svn