Comparison of mitochondrial DNA variants detection using short- and long-read sequencing

横浜市立大学2020年

RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy

International audienc

Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder

The significance of rare and de novo variants in bipolar disorder is not well understood. Here, the authors have analyzed whole exome/genome data from trios to identify deleterious de novo variants associated with bipolar disorder

RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy

International audienc

Progress toward a universal biomedical data translator

Clinical, biomedical, and translational science has reached an inflection point in the breadth and diversity of available data and the potential impact of such data to improve human health and well-being. However, the data are often siloed, disorganized, and not broadly accessible due to discipline-specific differences in terminology and representation. To address these challenges, the Biomedical Data Translator Consortium has developed and tested a pilot knowledge graph-based "Translator" system capable of integrating existing biomedical data sets and "translating" those data into insights intended to augment human reasoning and accelerate translational science. Having demonstrated feasibility of the Translator system, the Translator program has since moved into development, and the Translator Consortium has made significant progress in the research, design, and implementation of an operational system. Herein, we describe the current system's architecture, performance, and quality of results. We apply Translator to several real-world use cases developed in collaboration with subject-matter experts. Finally, we discuss the scientific and technical features of Translator and compare those features to other state-of-the-art, biomedical graph-based question-answering systems

Biolink Model: A universal schema for knowledge graphs in clinical, biomedical, and translational science

<h2>What's Changed</h2> <ul> <li>Documentation and repo hierarchy refactoring by @sierra-moxon in https://github.com/biolink/biolink-model/pull/1418</li> </ul> <p>Summary: 4.0.0 is a major release that includes many changes to the documentation for Biolink Model as well as the reorganization of the repository to support the new documentation structure and comply with LinkML best practices. The model itself has not changed significantly, but the documentation has been updated to reflect the current state of the model, and includes new visualizations of the model, additional text-based documentation, and a new gh-pages documentation layout.</p> <p><strong>Full Changelog</strong>: https://github.com/biolink/biolink-model/compare/v3.6.0...v4.0.0</p>Please cite the following works when using this software