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BAMQL: a query language for extracting reads from BAM files
Background It is extremely common to need to select a subset of reads from a BAM file based on their specific properties. Typically, a user unpacks the BAM file to a text stream... -
SCNS: a graphical tool for reconstructing executable regulatory networks from...
Background Reconstruction of executable mechanistic models from single-cell gene expression data represents a powerful approach to understanding developmental and disease... -
mORCA: ubiquitous access to life science web services
Background Technical advances in mobile devices such as smartphones and tablets have produced an extraordinary increase in their use around the world and have become part of our... -
ClinQC: a tool for quality control and cleaning of Sanger and NGS data in cli...
Background Traditional Sanger sequencing has been used as a gold standard method for genetic testing in clinic to perform single gene test, which has been a cumbersome and... -
From raw data to data-analysis for magnetic resonance spectroscopy – the miss...
Background Magnetic resonance spectroscopy provides metabolic information about living tissues in a non-invasive way. However, there are only few multi-centre clinical studies,... -
phylotree.js - a JavaScript library for application development and interacti...
Background While several JavaScript packages for visualizing phylogenetic trees exist, most are best characterized as frameworks that are designed with a specific set of tasks... -
Checklist for Early Recognition and Treatment of Acute Illness (CERTAIN): evo...
Background The Checklist for Early Recognition and Treatment of Acute Illness (CERTAIN) is an international collaborative project with the overall objective of standardizing the... -
Continuous Documentation for Users, Developers and Maintainers
This talk covers the often neglected and “hated” aspect of software documentation that is indispensable in a sustainable research software development process. A good,... -
Compendium of TCDD-mediated transcriptomic response datasets in mammalian mod...
Background 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) is the most potent congener of the dioxin class of environmental contaminants. Exposure to TCDD causes a wide range of... -
IDTAXA: a novel approach for accurate taxonomic classification of microbiome ...
Background Microbiome studies often involve sequencing a marker gene to identify the microorganisms in samples of interest. Sequence classification is a critical component of... -
PathOS: a decision support system for reporting high throughput sequencing of...
Background The increasing affordability of DNA sequencing has allowed it to be widely deployed in pathology laboratories. However, this has exposed many issues with the analysis... -
Finding and sharing GIS methods based on the questions they answer
Geographic information has become central for data scientists of many disciplines to put their analyzes into a spatio-temporal perspective. However, just as the volume and... -
Micro Archives as Rich Digital Object Representations
Digital objects as well as real-world entities are commonly referred to in literature or on the Web by mentioning their name, linking to their website or citing unique... -
G-DOC Plus – an integrative bioinformatics platform for precision medicine
Background G-DOC Plus is a data integration and bioinformatics platform that uses cloud computing and other advanced computational tools to handle a variety of biomedical BIG... -
Knowledge Author: facilitating user-driven, domain content development to sup...
Background Clinical Natural Language Processing (NLP) systems require a semantic schema comprised of domain-specific concepts, their lexical variants, and associated modifiers... -
Ioncopy: an R Shiny app to call copy number alterations in targeted NGS data
Background Somatic copy number alterations (CNAs) contribute to the clinically targetable aberrations in the tumor genome. For both routine diagnostics and biomarkers research,... -
Cnidaria: fast, reference-free clustering of raw and assembled genome and tra...
Background: Identification of biological specimens is a major requirement for a range of applications. Reference-free methods analyse unprocessed sequencing data without relying... -
BFPTool: a software tool for analysis of Biomembrane Force Probe experiments
Background The Biomembrane Force Probe is an approachable experimental technique commonly used for single-molecule force spectroscopy and experiments on biological interfaces.... -
Je, a versatile suite to handle multiplexed NGS libraries with unique molecul...
Background The yield obtained from next generation sequencers has increased almost exponentially in recent years, making sample multiplexing common practice. While barcodes... -
PhyInformR: phylogenetic experimental design and phylogenomic data exploratio...
Background Analyses of phylogenetic informativeness represent an important step in screening potential or existing datasets for their proclivity toward convergent or parallel...