Category Archives: Poster

28.07.2016 | Poster and Workshop at ECCB

A second poster from our working group will be presented at ECCB 2016. Daniela Beisser will present a poster about Taxonomic assignment of protist metatranscriptome sequences. She will also present the topic during the ECCB workshop “W11 – Recent Computational Advances in Metagenomics (RCAM’16)” on 4th September. See the workshop website for more information.

Taxonomic assignment of protist metatranscriptome sequences
Daniela Beisser, Nadine Graupner, Lars Grossmann, Jens Boenigk and Sven Rahmann

Abstract:
Next generation sequencing (NGS) technologies are increasingly applied to analyse complex microbial ecosystems by mRNA sequencing of whole communities, also known as metatranscriptome sequencing. In principle, each sequenced mRNA allows to both identify the species of origin and assign a function to the transcribed gene. While the functional information is sufficiently covered by databases such as Uniprot, NCBI, KEGG and many others, species identification is currently limited by incomplete reference databases. Inferring the community composition from metratranscriptomic samples is thus still a difficult problem. At the moment, most analyses are restricted to prokaryotic communities, which enjoy better database coverage, or to communities of few known species with sequenced genomes, or to a combination of rRNA and mRNA sequencing. However, the latter approach does not allow to link taxonomic and functional information directly.

Our approach focuses on an accurate assignment of taxonomic groups to metatranscriptomic reads. We constructed a custom database that comprises all major eukaryotic groups, developed a stand-alone tool to assign reads with a low false discovery rate and created a workflow for complete metatranscriptome analysis. The workflow covers all bioinformatic steps: preprocessing of the raw data, taxonomic and functional assignment, and visualisation of the results.

28.07.2016 | Poster about EAGLE at ECCB

A poster about the Exome Analysis GraphicaL Environment (EAGLE) was accepted for the ECCB 2016 at The Hague. Felix Mölder will present the poster there.

EAGLE: an easy-to-use web-based exome analysis environment
Christopher Schröder, Felix Mölder, Christoph Stahl and Sven Rahmann

Abstract:
High throughput exome sequencing is a widely used technology for deciphering mutations in the coding regions of a genome at relatively low cost. While bioinformatics analyses of exome sequencing data mostly agree on best practices regarding the analysis steps, called genomic variants depend on the set of parameters and applied filtering. We present EAGLE, a software that combines a best practices variant calling workflow with a web frontend. By storing the called variant information in HDF5 files (instead of SQL databases), EAGLE allows filtering and parameter tuning in almost real time. This enables iterative tuning of thresholds, or the selection of different samples for filtering by medical PIs via the web interface. The web interface presents metadata, annotations, quality control data and statistics to facilitate a comprehensive data analysis on different levels.

Poster about the EAGLE tool at University Hospital Essen Science Day 2015

Exome Analysis GraphicaL Environment (EAGLE)

Christopher Schröder, Christoph Stahl, Felix Mölder, André Janowicz, Jasmin Beygo, Marcel Martin, Sven Rahmanneagle

The Exome Analysis GraphicaL Environment (EAGLE) combines a best practices variant calling workflow, with a web frontend. By storing the called information in speficially structerd hdf5 files, EAGLE allows filtering and parameter tuning in almost real time. This enables iterative tuning of thresholds, or the selection of different samples for filtering by non computer scientists via the web interface.

Poster at GCB 2015 on mutational landscapes of relapsing neuroblastoma

Bioinformatics Analysis of Heterogenous Data Reveals Characteristic Mutational Landscapes of Neuroblastoma Relapses, GCB 2015 in Dortmund

Marc Schunb-posterlte, Johannes Köster, Daniela Beisser, Corinna Ernst, Christopher Schröder, Alexander Schramm and Sven Rahmann

Neuroblastoma is a malignancy of the developing sympathic nervous system that causes 15% of childhood cancer-related mortality. However, in the vast majority of cases death results not from the initial disease manifestation but rather from metastasis or recurrence.

Systematic search for genomic alterations in primary neuroblastomas has shown low genetic complexity, with significant mutations in only a very few genes. This study explored the genomic landscape of relapsing neuroblastoma in order to evaluate ‘driver’ mutations to be exploited as therapeutic targets.

Poster about dinopy at GCB 2015

Henning Timm and Till Hartmann
dinopy
Dinopy (Dna INput and Output in PYthon) is a Python package that aims to simplify the development of bioinformatics applications by providing efficient facilities for DNA input and output.
At the time of writing, there is no library for I/O of DNA specific files available which makes full use of the potential of Cython. Dinopy exports Cython level API bindings which can be used by other Cython applications for increased speedup.

Poster on Exomate at GfH 2014 in Essen

exomate-posterExomate: an easy to use exome sequencing analysis pipeline

Christopher Schröder, Johannes Köster, Christoph Stahl, Sebastian Venier, Sven Rahmann, Marcel Martin

Exomate is an exome-sequencing pipeline with a web frontend. It automates most steps needed to go from FASTQ files to variant calls, puts the calls and metadata about patients, samples, etc. into a database and then allows interactive analysis via a web frontend. It is primarily designed for easy use and has already been used in various studies [1,2,3].

[1] Martin, M. et al., 2013. Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3. Nat. Genet. 45, 933–936.

[2] Czeschik, J.C. et al., 2013. Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. Hum. Genet. 132, 885–898.

[3] Voigt, C., et al., 2013. Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies – expanding the phenotypes associated with EFTUD2 hfg mutations.
Orphanet J Rare Dis 8, 110.