MOTIVATION: The NanoString™ nCounter® technology platform is a widely used targeted quantification platform for the analysis of gene expression of up to ∼800 genes. Whereas the software tools by the manufacturer can perform the analysis in an interactive and GUI driven approach, there is no portable and user-friendly workflow available that can be used to perform reproducible analysis of multiple samples simultaneously in a scalable fashion on different computing infrastructures. RESULTS: Here, we present the nf-core/nanostring open-source pipeline to perform a comprehensive analysis including quality control and additional features such as expression visualization, annotation with additional metadata and input creation for differential gene expression analysis. The workflow features an easy installation, comprehensive documentation, open-source code with the possibility for further extensions, a strong portability across multiple computing environments and detailed quality metrics reporting covering all parts of the pipeline. nf-core/nanostring has been implemented in the Nextflow workflow language and supports Docker, Singularity, Podman container technologies as well as Conda environments, enabling easy deployment on any Nextflow supported compatible system, including most widely used cloud computing environments such as Google GCP or Amazon AWS. AVAILABILITY AND IMPLEMENTATION: The source code, documentation and installation instructions as well as results for continuous tests are freely available at https://github.com/nf-core/nanostring and https://nf-co.re/nanostring.

• False positive removal after gene recognition and normalization. • Integration of existing annotations, acronym resolution and classification. • Based on well established technologies in pharmaceutical industry. • Improvement in precision while keeping recall high. • We propose to use existing gene taggers to create corpora for common problematic cases. Gene name recognition and normalization is, together with detection of other named entities, a crucial step in biomedical text mining and the underlying basis for development of more advanced techniques like extraction of complex events. While the current state of the art solutions achieve highly promising results on average, performance can drop significantly for specific genes with highly ambiguous synonyms. Depending on the topic of interest, this can cause the need for extensive manual curation of such text mining results. Our goal was to enhance this curation step based on tools widely used in pharmaceutical industry utilizing the text processing and classification capabilities of the Konstanz Information Miner (KNIME) along with publicly available sources. F -score achieved on gene specific test corpora for highly ambiguous genes could be improved from values close to zero, due to very low precision, to values >0.9 for several cases. Interestingly the presented approach even resulted in an increased F -score for genes showing already good results in initial gene name normalization. For most test cases, we could significantly improve precision, while retaining a high recall. We could show that KNIME can be used to assist in manual curation of text mining results containing high numbers of false positive hits. Our results also indicate that it could be beneficial for future development in the field of gene name normalization to create gene specific training corpora based on incorrectly identified genes common to current state of the art algorithms.

BACKGROUND: A multiple sequence alignment (MSA) generated for a protein can be used to characterise residues by means of a statistical analysis of single columns. In addition to the examination of individual positions, the investigation of co-variation of amino acid frequencies offers insights into function and evolution of the protein and residues. RESULTS: We introduce conn(k), a novel parameter for the characterisation of individual residues. For each residue k, conn(k) is the number of most extreme signals of co-evolution. These signals were deduced from a normalised mutual information (MI) value U(k, l) computed for all pairs of residues k, l. We demonstrate that conn(k) is a more robust indicator than an individual MI-value for the prediction of residues most plausibly important for the evolution of a protein. This proposition was inferred by means of statistical methods. It was further confirmed by the analysis of several proteins. A server, which computes conn(k)-values is available at http://www-bioinf.uni-regensburg.de. CONCLUSION: The algorithms H2r, which analyses MSAs and computes conn(k)-values, characterises a specific class of residues. In contrast to strictly conserved ones, these residues possess some flexibility in the composition of side chains. However, their allocation is sensibly balanced with several other positions, as indicated by conn(k).