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Link to original content: http://www.ncbi.nlm.nih.gov/pubmed/30407521
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. 2019 Jan 8;47(D1):D745-D751.
doi: 10.1093/nar/gky1113.

Ensembl 2019

Fiona Cunningham  1 Premanand Achuthan  1 Wasiu Akanni  1 James Allen  1 M Ridwan Amode  1 Irina M Armean  1 Ruth Bennett  1 Jyothish Bhai  1 Konstantinos Billis  1 Sanjay Boddu  1 Carla Cummins  1 Claire Davidson  1 Kamalkumar Jayantilal Dodiya  1 Astrid Gall  1 Carlos García Girón  1 Laurent Gil  1 Tiago Grego  1 Leanne Haggerty  1 Erin Haskell  1 Thibaut Hourlier  1 Osagie G Izuogu  1 Sophie H Janacek  1 Thomas Juettemann  1 Mike Kay  1 Matthew R Laird  1 Ilias Lavidas  1 Zhicheng Liu  1 Jane E Loveland  1 José C Marugán  1 Thomas Maurel  1 Aoife C McMahon  1 Benjamin Moore  1 Joannella Morales  1 Jonathan M Mudge  1 Michael Nuhn  1 Denye Ogeh  1 Anne Parker  1 Andrew Parton  1 Mateus Patricio  1 Ahamed Imran Abdul Salam  1 Bianca M Schmitt  1 Helen Schuilenburg  1 Dan Sheppard  1 Helen Sparrow  1 Eloise Stapleton  1 Marek Szuba  1 Kieron Taylor  1 Glen Threadgold  1 Anja Thormann  1 Alessandro Vullo  1 Brandon Walts  1 Andrea Winterbottom  1 Amonida Zadissa  1 Marc Chakiachvili  1 Adam Frankish  1 Sarah E Hunt  1 Myrto Kostadima  1 Nick Langridge  1 Fergal J Martin  1 Matthieu Muffato  1 Emily Perry  1 Magali Ruffier  1 Daniel M Staines  1 Stephen J Trevanion  1 Bronwen L Aken  1 Andrew D Yates  1 Daniel R Zerbino  1 Paul Flicek  1
Affiliations

Ensembl 2019

Fiona Cunningham et al. Nucleic Acids Res. .

Abstract

The Ensembl project (https://www.ensembl.org) makes key genomic data sets available to the entire scientific community without restrictions. Ensembl seeks to be a fundamental resource driving scientific progress by creating, maintaining and updating reference genome annotation and comparative genomics resources. This year we describe our new and expanded gene, variant and comparative annotation capabilities, which led to a 50% increase in the number of vertebrate genomes we support. We have also doubled the number of available human variants and added regulatory regions for many mouse cell types and developmental stages. Our data sets and tools are available via the Ensembl website as well as a through a RESTful webservice, Perl application programming interface and as data files for download.

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Figures

Figure 1.
Figure 1.
Example of Ensembl's new motif feature visualization, displaying the position weight motif of IRF4, IRF5, IRF8 and IRF9, using height to represent information content.
Figure 2.
Figure 2.
The variant table for a transcript summarizes the annotation across the transcript for each variant, including the global allele frequency, clinical significance, consequence, allele change as well as five different prediction algorithms to assess the variant impact: SIFT (21), PolyPhen-2 (33), CADD (30), REVEL (29), MetaLR (31) and MutationAssessor (32).

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