Glauco P. Tocchini-Valentini

TL;DR: These guidelines are presented for the selection and interpretation of methods for use by investigators who aim to examine macroautophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes.

TL;DR: It is shown that human disease genes are enriched for essential genes, thus providing a dataset that facilitates the prioritization and validation of mutations identified in clinical sequencing efforts and reveals that incomplete penetrance and variable expressivity are common even on a defined genetic background.

TL;DR: Analyzing the first 3,328 genes identified models for 360 diseases, including the first models, to the knowledge, for type C Bernard–Soulier, Bardet–Biedl-5 and Gordon Holmes syndromes, and 90% of phenotype annotations were novel, providing functional evidence for 1,092 genes and candidates in genetically uncharacterized diseases.

TL;DR: The European Mouse Mutagenesis Consortium is the European initiative contributing to the international effort on functional annotation of the mouse genome to establish and integrate mutagenesis platforms, gene expression resources, phenotyping units, storage and distribution centers and bioinformatics resources.

TL;DR: New phenotypes were uncovered for many genes with previously unknown function, providing a powerful basis for hypothesis generation and further investigation in diverse systems.