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1. Sequencing data discovery with MetaSeek

   https://doi.org/10.1093/bioinformatics/btz499  

   Hoarfrost, Adrienne ; Brown, Nick ; Brown, C. Titus ; Arnosti, Carol ; Wren, ed., Jonathan ( June 2019 , Bioinformatics)

   Sequencing data resources have increased exponentially in recent years, as has interest in large-scale meta-analyses of integrated next-generation sequencing datasets. However, curation of integrated datasets that match a user’s particular research priorities is currently a time-intensive and imprecise task. MetaSeek is a sequencing data discovery tool that enables users to flexibly search and filter on any metadata field to quickly find the sequencing datasets that meet their needs. MetaSeek automatically scrapes metadata from all publicly available datasets in the Sequence Read Archive, cleans and parses messy, user-provided metadata into a structured, standard-compliant database and predicts missing fields where possible. MetaSeek provides a web-based graphical user interface and interactive visualization dashboard, as well as a programmatic API to rapidly search, filter, visualize, save, share and download matching sequencing metadata.

   The MetaSeek online interface is available at https://www.metaseek.cloud/. The MetaSeek database can also be accessed via API to programmatically search, filter and download all metadata. MetaSeek source code, metadata scrapers and documents are available at https://github.com/MetaSeek-Sequencing-Data-Discovery/metaseek/.

    

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2. EPIC-CoGe: managing and analyzing genomic data

   https://doi.org/10.1093/bioinformatics/bty106  

   Nelson, Andrew D. L. ; Haug-Baltzell, Asher K. ; Davey, Sean ; Gregory, Brian D. ; Lyons, Eric ; Hancock, ed., John ( February 2018 , Bioinformatics)

   The EPIC-CoGe browser is a web-based genome visualization utility that integrates the GMOD JBrowse genome browser with the extensive CoGe genome database (currently containing over 30 000 genomes). In addition, the EPIC-CoGe browser boasts many additional features over basic JBrowse, including enhanced search capability and on-the-fly analyses for comparisons and analyses between all types of functional and diversity genomics data. There is no installation required and data (genome, annotation, functional genomic and diversity data) can be loaded by following a simple point and click wizard, or using a REST API, making the browser widely accessible and easy to use by researchers of all computational skill levels. In addition, EPIC-CoGe and data tracks are easily embedded in other websites and JBrowse instances.

   EPIC-CoGe Browser is freely available for use online through CoGe (https://genomevolution.org). Source code (MIT open source) is available: https://github.com/LyonsLab/coge.

   Supplementary data are available at Bioinformatics online.

    

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3. GLIDER: function prediction from GLIDE-based neighborhoods

   https://doi.org/10.1093/bioinformatics/btac322  

   Devkota, Kapil ; Schmidt, Henri ; Werenski, Matt ; Murphy, James M. ; Erden, Mert ; Arsenescu, Victor ; Cowen, Lenore J. ; Valencia, ed., Alfonso ( May 2022 , Bioinformatics)

   Protein function prediction, based on the patterns of connection in a protein–protein interaction (or association) network, is perhaps the most studied of the classical, fundamental inference problems for biological networks. A highly successful set of recent approaches use random walk-based low-dimensional embeddings that tend to place functionally similar proteins into coherent spatial regions. However, these approaches lose valuable local graph structure from the network when considering only the embedding. We introduce GLIDER, a method that replaces a protein–protein interaction or association network with a new graph-based similarity network. GLIDER is based on a variant of our previous GLIDE method, which was designed to predict missing links in protein–protein association networks, capturing implicit local and global (i.e. embedding-based) graph properties.

   GLIDER outperforms competing methods on the task of predicting GO functional labels in cross-validation on a heterogeneous collection of four human protein–protein association networks derived from the 2016 DREAM Disease Module Identification Challenge, and also on three different protein–protein association networks built from the STRING database. We show that this is due to the strong functional enrichment that is present in the local GLIDER neighborhood in multiple different types of protein–protein association networks. Furthermore, we introduce the GLIDER graph neighborhood as a way for biologists to visualize the local neighborhood of a disease gene. As an application, we look at the local GLIDER neighborhoods of a set of known Parkinson’s Disease GWAS genes, rediscover many genes which have known involvement in Parkinson’s disease pathways, plus suggest some new genes to study.

   All code is publicly available and can be accessed here: https://github.com/kap-devkota/GLIDER.

   Supplementary data are available at Bioinformatics online.

    

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4. CellMeSH: probabilistic cell-type identification using indexed literature

   https://doi.org/10.1093/bioinformatics/btab834  

   Mao, Shunfu ; Zhang, Yue ; Seelig, Georg ; Kannan, Sreeram ( February 2022 , Bioinformatics)

   Birol, Inanc (Ed.)

   Single-cell RNA sequencing (scRNA-seq) is widely used for analyzing gene expression in multi-cellular systems and provides unprecedented access to cellular heterogeneity. scRNA-seq experiments aim to identify and quantify all cell types present in a sample. Measured single-cell transcriptomes are grouped by similarity and the resulting clusters are mapped to cell types based on cluster-specific gene expression patterns. While the process of generating clusters has become largely automated, annotation remains a laborious ad hoc effort that requires expert biological knowledge.

   Here, we introduce CellMeSH—a new automated approach to identifying cell types for clusters based on prior literature. CellMeSH combines a database of gene–cell-type associations with a probabilistic method for database querying. The database is constructed by automatically linking gene and cell-type information from millions of publications using existing indexed literature resources. Compared to manually constructed databases, CellMeSH is more comprehensive and is easily updated with new data. The probabilistic query method enables reliable information retrieval even though the gene–cell-type associations extracted from the literature are noisy. CellMeSH is also able to optionally utilize prior knowledge about tissues or cells for further annotation improvement. CellMeSH achieves top-one and top-three accuracies on a number of mouse and human datasets that are consistently better than existing approaches.

   Web server at https://uncurl.cs.washington.edu/db_query and API at https://github.com/shunfumao/cellmesh.

   Supplementary data are available at Bioinformatics online.

    

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5. medna-metadata: an open-source data management system for tracking environmental DNA samples and metadata

   https://doi.org/10.1093/bioinformatics/btac556  

   Kimble, M. ; Allers, S. ; Campbell, K. ; Chen, C. ; Jackson, L. M. ; King, B. L. ; Silverbrand, S. ; York, G. ; Beard, K. ; Robinson, ed., Peter ( August 2022 , Bioinformatics)

   Environmental DNA (eDNA), as a rapidly expanding research field, stands to benefit from shared resources including sampling protocols, study designs, discovered sequences, and taxonomic assignments to sequences. High-quality community shareable eDNA resources rely heavily on comprehensive metadata documentation that captures the complex workflows covering field sampling, molecular biology lab work, and bioinformatic analyses. There are limited sources that provide documentation of database development on comprehensive metadata for eDNA and these workflows and no open-source software.

   We present medna-metadata, an open-source, modular system that aligns with Findable, Accessible, Interoperable, and Reusable guiding principles that support scholarly data reuse and the database and application development of a standardized metadata collection structure that encapsulates critical aspects of field data collection, wet lab processing, and bioinformatic analysis. Medna-metadata is showcased with metabarcoding data from the Gulf of Maine (Polinski et al., 2019).

   The source code of the medna-metadata web application is hosted on GitHub (https://github.com/Maine-eDNA/medna-metadata). Medna-metadata is a docker-compose installable package. Documentation can be found at https://medna-metadata.readthedocs.io/en/latest/?badge=latest. The application is implemented in Python, PostgreSQL and PostGIS, RabbitMQ, and NGINX, with all major browsers supported. A demo can be found at https://demo.metadata.maine-edna.org/.

   Supplementary data are available at Bioinformatics online.

    

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