Ensembl 2020

作者：Andrew Yates, Premanand Achuthan, Wasiu Akanni, James E. Allen, Jamie Allen, Jorge Álvarez-Jarreta, M Ridwan Amode, Irina M. Armean, Andrey G Azov, Ruth Bennett, Jyothish Bhai, Konstantinos Billis, Sanjay Boddu, José Carlos Marugán, Carla Cummins, Claire Davidson, Kamalkumar Dodiya, Reham Fatima, Astrid Gall, Carlos García Girón, Laurent Gil, Tiago Grego, Leanne Haggerty, Erin Haskell, Thibaut Hourlier, Osagie Izuogu, Sophie H. Janacek, Thomas Juettemann, Mike Kay, Ilias Lavidas, Anh Tuấn Lê, Diana Lemos, José M. González, Thomas Maurel, Mark D. McDowall, Aoife McMahon, Shamika Mohanan, Benjamin Moore, Michael Nuhn, Denye N Oheh, Anne Parker, Andrew Parton, Mateus Patrício, Manoj Pandian Sakthivel, Ahamed Imran Abdul Salam, Bianca M. Schmitt, Helen Schuilenburg, Dan Sheppard, Mira Sycheva, M. Szuba, Kieron Taylor, Anja Thormann, Glen Threadgold, Alessandro Vullo, Brandon Walts, Andrea Winterbottom, Amonida Zadissa, Marc Chakiachvili, Bethany Flint, Adam Frankish, Sarah Hunt, Garth R IIsley, Myrto Kostadima, Nicholas Langridge, Jane Loveland, Fergal J. Martin, Joannella Morales, Jonathan M. Mudge, Matthieu Muffato, Emily Perry, Magali Ruffier, Stephen J. Trevanion, Fiona Cunningham, Kevin Howe, Daniel R. Zerbino, Paul Flicek · 发表于：Nucleic Acids Research · 年份：2019 · DOI：10.1093/nar/gkz966 · 被引用次数：1228 · 研究领域：Genomics and Phylogenetic Studies、Bioinformatics and Genomic Networks、RNA modifications and cancer

The Ensembl (https://www.ensembl.org) is a system for generating and distributing genome annotation such as genes, variation, regulation and comparative genomics across the vertebrate subphylum and key model organisms. The Ensembl annotation pipeline is capable of integrating experimental and reference data from multiple providers into a single integrated resource. Here, we present 94 newly annotated and re-annotated genomes, bringing the total number of genomes offered by Ensembl to 227. This represents the single largest expansion of the resource since its inception. We also detail our continued efforts to improve human annotation, developments in our epigenome analysis and display, a new tool for imputing causal genes from genome-wide association studies and visualisation of variation within a 3D protein model. Finally, we present information on our new website. Both software and data are made available without restriction via our website, online tools platform and programmatic interfaces (available under an Apache 2.0 license) and data updates made available four times a year.