Bioinformatics Open Source Conference 2013, day 2 afternoon: cloud computing, translational genomics and funding

I’m in Berlin at the 2013 Bioinformatics Open Source Conference. The conference focuses on tools and approaches for openly developed community software supporting scientific research. These are my notes from the day 2 afternoon sessions focusing on cloud computing, infrastructure, translational genomics and funding of community open source tools.

Previous notes:

Cloud and Genome scale computing

Towards Enabling Big Data and Federated Computing in the Cloud

Enis Afgan

Hadoop is a commonly used approach to distribute work using map-reduce. HTCondor scavenges cycles from idle computation on machines. CloudMan organizes Amazon architecture and provides a management interface. Goal of the project is to combine these three to explore usage in biology. Provides a Hadoop-over-SGE integration component that spins up a Hadoop cluster with HDFS and master/worker nodes. Hadoop setup takes 2 minutes: nice solution for using Hadoop on top of existing cluster scheduler. HTCondor provides scaling out between local and cloud infrastructure or two cloud infrastructures. Currently a manual interchange process to connect the two clusters. Once connected can submit jobs across multiple jobs, transferring data via HTCondor.

MyGene.info: Making Elastic and Extensible Gene­-centric Web Services

Chunlei Wu

mygene.info provides a set of web services to query and retrieve gene annotation information. The goal is to avoid the need to update and maintain local annotation data: annotation as a service. Updates data weekly from external resources and place into document database MongoDB. Exposed as a simple REST interface allowing query and retrieval via gene IDs. They have a Python API called mygene and javascript autocomplete widget.

An update on the Seal Hadoop-based sequence processing toolbox

Luca Pireddu

Seal provides distribution of bioinformatics alogrithms on Hadoop. Motivated by success Google has had scaling larger data problems with this approach. Key idea: move to a different computing paradigm. Developed for sequencing core at CSR4. Some tools implemented: Seqal – short read mapping with bwa; Demux – demultiplex samples from multiplexed runs. RecabTable – recalibration of base quality equivalent to GATK’s CountCovariatesWalker; ReadSort – distributed sorting of read alignments. Provided wrappers for Seal tools which is a bit tricky since Hadoop doesn’t follow Galaxy model.

Open Source Configuration of Bioinformatics Infrastructure

John Chilton

John is tackling the problem of configuring complex applications. His work builds on top of CloudBioLinux which makes heavy use of Fabric. Fabric doesn’t handle configuration management well: not a goal of the project. Two examples of configuration management systems: Puppet and Chef. John extended CloudBioLinux to allow use of puppet modules and chef cookbooks. A lightweight job runner tool called LWR sits on top of Galaxy using this. Also working on integration with the Globus toolkit. John advocates creating a community called bioconfig around these ideas.

An Open Source Framework for Gene Prioritization

Hoan Nguyen, Vincent Walter

SM2PH (Strucural Mutation to Pathology Phenotypes in Human) project helps prioritize most promising features associated with a biological question: processes, pathologies or networks. Involves a three step process: building a model for training features, locally prioritizing these and then globally prioritizing. Developed a tool called GEPETTO that handles prioritization. Built in a modular manner for plugins and extension from the community. Integrates with Galaxy framework via tool shed. Prioritization modules: protein sequence alignment, evolutionary barcodes, genomic context, transcription data, protein-protein interactions, hereditary disease gene probability. Uses jBPM as a workflow engine. Applied GEPETTO prioritization to work on age-related macular degeneration (those scary eye pictures you see at the optometrist).

RAMPART: an automated de novo assembly pipeline

Daniel Mapleson

RAMPART provides an automated de-novo assembly pipeline as part of core service. Motivation is that the TGAC core handles a hydrogenous input of data so need to support multiple approaches and parameters. One difficulty is that it’s hard to assess which assembly is best. Some ideas: known genome length, most contiguous (N50), alignments of reads to assembly and assembly to reference. Nicely wrapped all of this up into a single tool that works across multiple assemblers and clusters. Broken into stages of error correction, assembly with multiple approaches, decision on assembly to use, then an assembly improver. Builds on top of the EBI’s Conan workflow management application. Provides an external tool API to interface with third party software.

Flexible multi-omics data capture and integration tools for high-throughput biology

Joeri van der Velde

Molgenis provides a software generator and web interface for commandline tools based on a domain specific language. Provides customized front ends for diverse set of tools. Nice software setup with continuous integration and deployment to 50 servers. Motivation is to understand genotype to phenotype with heterogeneous data inputs. Challenge is how to prepare the custom web interfaces when data is multi-dimensional in terms of comparisons. Treat this as a big matrix of comparisons between subject and traits. Shows nice plots of displaying QTLs for C elegans projects warehoused on Molgenis. Same approach works well across multiple organisms: Arabidopsis.

Translational genomics

Understanding Cancer Genomes Using Galaxy

Jeremy Goecks

Jeremy’s research model: find computing challenges, invent software to handle it, and demonstrate usefulness via genomics. Focus on this talk is pancreatic cancer transcriptome analysis. Jeremy’s builds tools on top of Galaxy. Added new tools for variant calling, fusion detection and VCF manipulation. Jeremy shows a Galaxy workflow for transcriptome analysis. Advantages of Galaxy workflows: recomputable, human readable, importable, sharable and publishable in Galaxy pages. Uses Cancer Cell Line Encylopedia for comparisons. Now a more complex workflow with variants, gene expression and annotations to do targeted eQTL analysis. Custom visualizations provide ability to extract partial sets of data, then publish results of those views. Provides an API to plug in custom visualization tools. Shows a nice demo of recalling variants on only a single gene with adjusted parameters. Has another tool which does parameter sweeps and shows quickly how output looks with different subsets of parameters.

Strategies for funding and maintaining open source software

BOSC ended with a panel discussion featuring Peter Cock, Sean Eddy, Carole Goble, Scott Markel and Jean Peccoud. We discussed approaches for funding long term open source scientific software. I chaired the panel so didn’t get to take the usual notes but will summarize the main points:

  • Working openly and sharing your work helps with your impact on science.
  • It is critical to be able to effectively demonstrate your impact to reviewers, granting agencies, and users of your tools. Sean Eddy shared the Deletion Metric for research impact: Were a researcher to be deleted, would there be any phenotype?
  • To demonstrate impact, be able to quantify usage in some way. Some of the best things are personal stories and recommendations about how your software helps enable science in ways other tools can’t.
  • Papers play in important role in educating, promoting and demonstrating usage of your software, but are also not the only metric.
  • We need to take personal responsibility as developers for categorizing impact and usage. Download/views are not great metrics since hard to categorize. Better to be able to engage and understand usage and ask users to cite and recommend. Lightweight easy citation systems would go a long way towards enabling this.

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