Anne Parker

TL;DR: This work generates primary data, creates bioinformatics tools and provides analysis to support the work of expert manual gene annotators and automated gene annotation pipelines to identify and characterise gene loci to the highest standard.

TL;DR: Recent Ensembl developments are presented including two new website portals, which are designed to provide core tools and services for genomes as soon as possible and has been deployed to support large biodiversity sequencing projects.

TL;DR: Analysis of the sequence reveals many intra- and interchromosomal duplications, including segmental duplications adjacent to both the centromere and the large heterochromatic block, and detects recently duplicated genes that exhibit different rates of sequence divergence, presumably reflecting natural selection.

TL;DR: The GENCODE project annotates human and mouse genes and transcripts supported by experimental data with high accuracy, providing a foundational resource that supports genome biology and clinical genomics as mentioned in this paper. But the annotation process does not support the creation of transcript structures and the determination of their function.

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.