Ensembl 2023

作者：Fergal J. Martin, M Ridwan Amode, Alisha Aneja, Olanrewaju Austine-Orimoloye, Andrey G Azov, If Habib Ahmed Barnes, Arne Becker, Ruth Bennett, Andrew E. Berry, Jyothish N Nair Thulasee Bhai, Simarpreet Kaur Bhurji, Alexandra Bignell, Sanjay Boddu, Paulo R. Branco Lins, Lucy A. Brooks, Shashank Budhanuru Ramaraju, Mehrnaz Charkhchi, Alexander Cockburn, Luca Da Rin Fiorretto, Claire Davidson, Kamalkumar Dodiya, Sarah M. Donaldson, Bilal El Houdaigui, Tamara El Naboulsi, Reham Fatima, Carlos García Girón, Thiago A. L. Genez, Gurpreet S Ghattaoraya, José M. González, Cristina Guijarro-Clarke, Matthew Philip Hardy, Zoe Hollis, Thibaut Hourlier, Toby Hunt, Mike Kay, Vinay Kaykala, Anh Tuấn Lê, Diana Lemos, Diego Marques Coelho, José Carlos Marugán, Gabriela Alejandra Merino, Louisse Paola Mirabueno, Aleena Mushtaq, Syed Nakib Hossain, Denye N. Ogeh, Manoj Pandian Sakthivel, Anne Parker, Malcolm Perry, Ivana Piližota, Irina Prosovetskaia, José G Pérez-Silva, Ahamed Imran Abdul Salam, Nuno Saraiva-Agostinho, Helen Schuilenburg, Dan Sheppard, Swati Sinha, Botond Sipos, William Stark, Emily Steed, Ranjit Sukumaran, Dulika Sumathipala, Marie‐Marthe Suner, Likhitha Surapaneni, Kyösti Sutinen, Michał Szpak, Francesca Floriana Tricomi, David Urbina-Gómez, Andres Veidenberg, Thomas Walsh, Brandon Walts, Elizabeth Wass, Natalie L Willhoft, Jamie Allen, Jorge Álvarez-Jarreta, Marc Chakiachvili, Bethany Flint, Stefano Giorgetti, Leanne S. Haggerty, Garth R Ilsley, Jane E. Loveland, Benjamin Moore, Jonathan M. Mudge, John G. Tate, David Thybert, Stephen J. Trevanion, Andrea Winterbottom, Adam Frankish, Sarah E Hunt, Magali Ruffier, Fiona M Cunningham, Sarah C. Dyer, ROBERT FINN, Kevin Howe, Peter W. Harrison, Andrew D. Yates, Paul Flicek · 发表于：Nucleic Acids Research · 年份：2022 · DOI：10.1093/nar/gkac958 · 被引用次数：1133 · 研究领域：Genomics and Phylogenetic Studies、Genetic Mapping and Diversity in Plants and Animals、Bioinformatics and Genomic Networks

Ensembl (https://www.ensembl.org) has produced high-quality genomic resources for vertebrates and model organisms for more than twenty years. During that time, our resources, services and tools have continually evolved in line with both the publicly available genome data and the downstream research and applications that utilise the Ensembl platform. In recent years we have witnessed a dramatic shift in the genomic landscape. There has been a large increase in the number of high-quality reference genomes through global biodiversity initiatives. In parallel, there have been major advances towards pangenome representations of higher species, where many alternative genome assemblies representing different breeds, cultivars, strains and haplotypes are now available. In order to support these efforts and accelerate downstream research, it is our goal at Ensembl to create high-quality annotations, tools and services for species across the tree of life. Here, we report our resources for popular reference genomes, the dramatic growth of our annotations (including haplotypes from the first human pangenome graphs), updates to the Ensembl Variant Effect Predictor (VEP), interactive protein structure predictions from AlphaFold DB, and the beta release of our new website.