Simon Brent

TL;DR: The consistency of the annotation across species and the focus on vertebrates makes Ensembl an ideal system to perform and support vertebrate comparative genomic analyses and it is used to produce reference comparative data and make it freely available.

TL;DR: Major additions and improvements to Ensembl since the previous report include the incorporation of the human GRCh37 assembly, enhanced visualisation and data-mining options for the Ensemblembl regulatory features and continued development of the software infrastructure.

TL;DR: This paper provides a detailed description of the sources of data and the methods for creating the Ensembl variation databases, and explores the utility of the information by explaining the range of query options available, from using interactive web displays, to online data mining tools and connecting directly to the data servers programmatically.

TL;DR: A functional annotation of the regulatory elements along the human and mouse genomes with plans to expand to other species as data becomes available from the Ensembl project.

TL;DR: The most significant factors influencing the diagnostic yield of de novo mutations are the sex of the affected individual, the relatedness of their parents and the age of both father and mother as discussed by the authors.