SeqBench: integrated solution for the management and analysis of exome sequencing data.

Background: The rapid development of next generation sequencing technologies, including the recently introduced benchtop sequencers, made sequencing affordable for smaller research institutions. A widely applied method to identify causing mutations of diseases is exome sequencing, which proved to be cost-effective and time-saving.

Findings: SeqBench, a web-based application, combines management and analysis of exome sequencing data into one solution.

Co-expressed genes prepositioned in spatial neighborhoods stochastically associate with SC35 speckles and RNA polymerase II factories.

Chromosomally separated, co-expressed genes can be in spatial proximity, but there is still debate about how this nuclear organization is achieved. Proposed mechanisms include global genome organization, preferential positioning of chromosome territories, or gene-gene sharing of various nuclear bodies. To investigate this question, we selected a set of genes that were co-expressed upon differentiation of human multipotent stem cells.

Alterations in the colonic microbiota in response to osmotic diarrhea.

Background & Aims: Diseases of the human gastrointestinal (GI) tract are often accompanied by diarrhea with profound alterations in the GI microbiota termed dysbiosis. Whether dysbiosis is due to the disease itself or to the accompanying diarrhea remains elusive. With this study we characterized the net effects of osmotic diarrhea on the composition of the GI microbiota in the absence of disease.

SIMPLEX: cloud-enabled pipeline for the comprehensive analysis of exome sequencing data.

In recent studies, exome sequencing has proven to be a successful screening tool for the identification of candidate genes causing rare genetic diseases. Although underlying targeted sequencing methods are well established, necessary data handling and focused, structured analysis still remain demanding tasks. Here, we present a cloud-enabled autonomous analysis pipeline, which comprises the complete exome analysis workflow.

Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.

Kohlschütter-Tönz syndrome (KTS) is an autosomal-recessive disease characterized by the combination of epilepsy, psychomotor regression, and amelogenesis imperfecta. The molecular basis has not yet been elucidated. Here, we report that KTS is caused by mutations in ROGDI.

Information technology solutions for integration of biomolecular and clinical data in the identification of new cancer biomarkers and targets for therapy.

The quest for new cancer biomarkers and targets for therapy requires not only the aggregation and analysis of heterogeneous biomolecular data but also integration of clinical data. In this review we highlight information technology solutions for the integration of biomolecular and clinical data and focus on a solution at the departmental level, i.e.

iLAP: a workflow-driven software for experimental protocol development, data acquisition and analysis.

Background: In recent years, the genome biology community has expended considerable effort to confront the challenges of managing heterogeneous data in a structured and organized way and developed laboratory information management systems (LIMS) for both raw and processed data. On the other hand, electronic notebooks were developed to record and manage scientific data, and facilitate data-sharing. Software which enables both, management of large datasets and digital recording of laboratory procedures would serve a real need in laboratories using medium and high-throughput techniques.

MASPECTRAS: a platform for management and analysis of proteomics LC-MS/MS data.

Background: The advancements of proteomics technologies have led to a rapid increase in the number, size and rate at which datasets are generated. Managing and extracting valuable information from such datasets requires the use of data management platforms and computational approaches.

Results: We have developed the MAss SPECTRometry Analysis System (MASPECTRAS), a platform for management and analysis of proteomics LC-MS/MS data.

CARMAweb: comprehensive R- and bioconductor-based web service for microarray data analysis.

CARMAweb (Comprehensive R-based Microarray Analysis web service) is a web application designed for the analysis of microarray data. CARMAweb performs data preprocessing (background correction, quality control and normalization), detection of differentially expressed genes, cluster analysis, dimension reduction and visualization, classification, and Gene Ontology-term analysis. This web application accepts raw data from a variety of imaging software tools for the most widely used microarray platforms: Affymetrix GeneChips, spotted two-color microarrays and Applied Biosystems (ABI) microarrays.

MARS: microarray analysis, retrieval, and storage system.

Background: Microarray analysis has become a widely used technique for the study of gene-expression patterns on a genomic scale. As more and more laboratories are adopting microarray technology, there is a need for powerful and easy to use microarray databases facilitating array fabrication, labeling, hybridization, and data analysis. The wealth of data generated by this high throughput approach renders adequate database and analysis tools crucial for the pursuit of insights into the transcriptomic behavior of cells.

GOLD.db: genomics of lipid-associated disorders database.

Background: The GOLD.db (Genomics of Lipid-Associated Disorders Database) was developed to address the need for integrating disparate information on the function and properties of genes and their products that are particularly relevant to the biology, diagnosis management, treatment, and prevention of lipid-associated disorders.

Description: The GOLD.

ClusterControl: a web interface for distributing and monitoring bioinformatics applications on a Linux cluster.

Unlabelled: ClusterControl is a web interface to simplify distributing and monitoring bioinformatics applications on Linux cluster systems. We have developed a modular concept that enables integration of command line oriented program into the application framework of ClusterControl. The systems facilitate integration of different applications accessed through one interface and executed on a distributed cluster system.

Information management systems for pharmacogenomics.

The value of high-throughput genomic research is dramatically enhanced by association with key patient data. These data are generally available but of disparate quality and not typically directly associated. A system that could bring these disparate data sources into a common resource connected with functional genomic data would be tremendously advantageous.