Ensembl 2023

Author:

Martin Fergal J1ORCID,Amode M Ridwan1,Aneja Alisha1,Austine-Orimoloye Olanrewaju1,Azov Andrey G1,Barnes If1,Becker Arne1,Bennett Ruth1,Berry Andrew1,Bhai Jyothish1,Bhurji Simarpreet Kaur1,Bignell Alexandra1,Boddu Sanjay1,Branco Lins Paulo R1,Brooks Lucy1,Ramaraju Shashank Budhanuru1,Charkhchi Mehrnaz1,Cockburn Alexander1,Da Rin Fiorretto Luca1,Davidson Claire1,Dodiya Kamalkumar1,Donaldson Sarah1,El Houdaigui Bilal1,El Naboulsi Tamara1,Fatima Reham1,Giron Carlos Garcia1ORCID,Genez Thiago1,Ghattaoraya Gurpreet S1,Martinez Jose Gonzalez1,Guijarro Cristi1,Hardy Matthew1,Hollis Zoe1,Hourlier Thibaut1ORCID,Hunt Toby1,Kay Mike1,Kaykala Vinay1,Le Tuan1,Lemos Diana1,Marques-Coelho Diego1,Marugán José Carlos1,Merino Gabriela Alejandra1,Mirabueno Louisse Paola1,Mushtaq Aleena1,Hossain Syed Nakib1,Ogeh Denye N1,Sakthivel Manoj Pandian1,Parker Anne1,Perry Malcolm1,Piližota Ivana1,Prosovetskaia Irina1,Pérez-Silva José G1,Salam Ahamed Imran Abdul1,Saraiva-Agostinho Nuno1,Schuilenburg Helen1,Sheppard Dan1,Sinha Swati1,Sipos Botond1,Stark William1,Steed Emily1,Sukumaran Ranjit1,Sumathipala Dulika1,Suner Marie-Marthe1ORCID,Surapaneni Likhitha1,Sutinen Kyösti1,Szpak Michal1,Tricomi Francesca Floriana1,Urbina-Gómez David1,Veidenberg Andres1,Walsh Thomas A1,Walts Brandon1,Wass Elizabeth1,Willhoft Natalie1,Allen Jamie1,Alvarez-Jarreta Jorge1,Chakiachvili Marc1,Flint Bethany1,Giorgetti Stefano1,Haggerty Leanne1,Ilsley Garth R1,Loveland Jane E1ORCID,Moore Benjamin1,Mudge Jonathan M1,Tate John1,Thybert David1,Trevanion Stephen J1,Winterbottom Andrea1,Frankish Adam1ORCID,Hunt Sarah E1ORCID,Ruffier Magali1,Cunningham Fiona1ORCID,Dyer Sarah1,Finn Robert D1ORCID,Howe Kevin L1,Harrison Peter W1ORCID,Yates Andrew D1ORCID,Flicek Paul1ORCID

Affiliation:

1. European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton , CB10 1SD , Cambridge , UK

Abstract

Abstract 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.

Funder

Wellcome Trust

National Institutes of Health

Biotechnology and Biological Sciences Research Council

Open Targets

British Council

European Union's Horizon 2020

Publisher

Oxford University Press (OUP)

Subject

Genetics

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