Ensembl 2022
Open accessAbstract
Ensembl (https://www.ensembl.org) is unique in its flexible infrastructure for access to genomic data and annotation. It has been designed to efficiently deliver annotation at scale for all eukaryotic life, and it also provides deep comprehensive annotation for key species. Genomes representing a greater diversity of species are increasingly being sequenced. In response, we have focussed our recent efforts on expediting the annotation of new assemblies. Here, we report the release of the greatest annual number of newly annotated genomes in the history of Ensembl via our dedicated Ensembl Rapid Release platform (http://rapid.ensembl.org). We have also developed a new method to generate comparative analyses at scale for these assemblies and, for the first time, we have annotated non-vertebrate eukaryotes. Meanwhile, we continually improve, extend and update the annotation for our high-value reference vertebrate genomes and report the details here. We have a range of specific software tools for specific tasks, such as the Ensembl Variant Effect Predictor (VEP) and the newly developed interface for the Variant Recoder. All Ensembl data, software and tools are freely available for download and are accessible programmatically.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The impact of predicted structures is enhanced by their seamless integration into several core data resources, including PDBe-KB, UniProt, Ensembl, InterPro, Genecards and MobiDB.
“The impact of the predicted structures is further enhanced by their seamless integration into several core data resources, including PDBe-KB (17), UniProt (6), Ensembl (16), InterPro (15), Genecards (24) and MobiDB (25), among others.”
From AlphaFold Protein Structure Database in 2024: providing structure coverage for over 214 million protein sequences (2024) · cites this paper as [16]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
STAR: ultrafast universal RNA-seq aligner
Dobin, A., Davis, C. A., Schlesinger, F., Drenkow, J., Zaleski, C., Jha, S., Batut, P., Chaisson, M., & Gingeras, T. R. (2013) · Bioinformatics · doi:10.1093/bioinformatics/bts635 · Cited by 51,709 · see citing works
Progressive Cactus is a multiple-genome aligner for the thousand-genome era
Armstrong, J., Hickey, G., Diekhans, M., Fiddes, I. T., Novak, A. M., Deran, A., Fang, Q., Xie, D., Feng, S., Stiller, J., et al. (2020) · Nature · doi:10.1038/s41586-020-2871-y · Cited by 586 · cited 2× · see citing works
“We have deployed the Cactus (9) multiple genome aligner software, which is able to compute high quality multiple genome alignments with thousands of genomes in linear time.”
de Almeida, B. P., Reiter, F., Pagani, M., & Stark, A. (2021) · doi:10.1101/2021.10.05.463203 · Cited by 284
de Almeida, B. P., Reiter, F., Pagani, M., & Stark, A. (2022) · Nature Genetics · doi:10.1038/s41588-022-01048-5 · Cited by 283 · see citing works
Flagged first, then by citations
Research works printed but not linked: 32
- [1]McLaren W., Gil L., Hunt S.E., Riat H.S., Ritchie G.R.S., Thormann A., Flicek P., Cunningham F. The Ensembl Variant Effect Predictor. Genome Biol. 2016; 17: 122. 27268795 PMC4893825
- [2]Howe K.L., Achuthan P., Allen J., Allen J., Alvarez-Jarreta J., Amode M.R., Armean I.M., Azov A.G., Bennett R., Bhai J. et al. Ensembl 2021. Nucleic. Acids. Res. 2021; 49: D884– D891. 33137190 PMC7778975
- [3]Rhie A., McCarthy S.A., Fedrigo O., Damas J., Formenti G., Koren S., Uliano-Silva M., Chow W., Fungtammasan A., Kim J. et al. Towards complete and error-free genome assemblies of all vertebrate species. Nature. 2021; 592: 737– 746. 33911273 PMC8081667
- [4]Lewin H.A., Robinson G.E., Kress W.J., Baker W.J., Coddington J., Crandall K.A., Durbin R., Edwards S.V., Forest F., Gilbert M.T.P. et al. Earth BioGenome Project: Sequencing life for the future of life. Proc. Natl. Acad. Sci. U.S.A. 2018; 115: 4325– 4333. 29686065 PMC5924910
- [6]Shao M., Kingsford C. Accurate assembly of transcripts through phase-preserving graph decomposition. Nat. Biotechnol. 2017; 35: 1167– 1169. 29131147 PMC5722698
- [7]Kovaka S., Zimin A.V., Pertea G.M., Razaghi R., Salzberg S.L., Pertea M. Transcriptome assembly from long-read RNA-seq alignments with StringTie2. Genome Biol. 2019; 20: 278. 31842956 PMC6912988
- [8]Buchfink B., Reuter K., Drost H.-G. Sensitive protein alignments at tree-of-life scale using DIAMOND. Nat. Methods. 2021; 18: 366– 368. 33828273 PMC8026399
- [10]Girgis H.Z. Red: an intelligent, rapid, accurate tool for detecting repeats de-novo on the genomic scale. BMC Bioinformatics. 2015; 16: 227. 26206263 PMC4513396
- [11]Flynn J.M., Hubley R., Goubert C., Rosen J., Clark A.G., Feschotte C., Smit A.F. RepeatModeler2 for automated genomic discovery of transposable element families. Proc. Natl. Acad. Sci. U.S.A. 2020; 117: 9451– 9457. 32300014 PMC7196820
- [12]Storer J., Hubley R., Rosen J., Wheeler T.J., Smit A.F. The Dfam community resource of transposable element families, sequence models, and genome annotations. Mob. DNA. 2021; 12: 2. 33436076 PMC7805219
- [13]Yates A., Beal K., Keenan S., McLaren W., Pignatelli M., Ritchie G.R.S., Ruffier M., Taylor K., Vullo A., Flicek P. The Ensembl REST API: Ensembl Data for Any Language. Bioinformatics. 2015; 31: 143– 145. 25236461 PMC4271150
- [14]Pennisi E. ENCODE project writes eulogy for Junk DNA. Science. 2012; 337: 1159– 1161. 22955811
- [15]Vilella A.J., Severin J., Ureta-Vidal A., Heng L., Durbin R., Birney E. EnsemblCompara GeneTrees: complete, duplication-aware phylogenetic trees in vertebrates. Genome Res. 2009; 19: 327– 335. 19029536 PMC2652215
- [16]Frankish A., Diekhans M., Jungreis I., Lagarde J., Loveland J.E., Mudge J.M., Sisu C., Wright J.C., Armstrong J., Barnes I. et al. GENCODE 2021. Nucleic Acids Res. 2021; 49: D916– D923. 33270111 PMC7778937
- [17]Kalia S.S., Adelman K., Bale S.J., Chung W.K., Eng C., Evans J.P., Herman G.E., Hufnagel S.B., Klein T.E., Korf B.R. et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet. Med. 2017; 19: 249– 255. 27854360
- [18]Pruitt K.D., Brown G.R., Hiatt S.M., Thibaud-Nissen F., Astashyn A., Ermolaeva O., Farrell C.M., Hart J., Landrum M.J., McGarvey K.M. et al. RefSeq: an update on mammalian reference sequences. Nucleic Acids Res. 2014; 42: D756– D763. 24259432 PMC3965018
- [19]Morales J., McMahon A.C., Loveland J., Perry E., Frankish A., Hunt S., Armean I.M., Flicek P., Cunningham F. The value of primary transcripts to the clinical and non-clinical genomics community: survey results and roadmap for improvements. Mol. Genet. Genomic Med. 2021; 00: e1786. PMC8683622 34435752
- [20]Adams D., Altucci L., Antonarakis S.E., Ballesteros J., Beck S., Bird A., Bock C., Boehm B., Campo E., Caricasole A. et al. BLUEPRINT to decode the epigenetic signature written in blood. Nat. Biotechnol. 2012; 30: 224– 226. 22398613
- [21]Stunnenberg H.G., Abrignani S., Adams D., de Almeida M., Altucci L., Amin V., Amit I., Antonarakis S.E., Aparicio S., Arima T. et al. The International Human Epigenome Consortium: a blueprint for scientific collaboration and discovery. Cell. 2016; 167: 1145– 1149. 27863232
- [22]Avsec Ž., Agarwal V., Visentin D., Ledsam J.R., Grabska-Barwinska A., Taylor K.R., Assael Y., Jumper J., Kohli P., Kelley D.R. Effective gene expression prediction from sequence by integrating long-range interactions. Nat. Methods. 2021; 18: 1196– 1203. 34608324 PMC8490152
- [23]Umarov R., Li Y., Arakawa T., Takizawa S., Gao X., Arner E. ReFeaFi: genome-wide prediction of regulatory elements driving transcription initiation. PLoS Comput. Biol. 2021; 17: e1009376. 34491989 PMC8448322
- [25]Kerimov N., Hayhurst J.D., Peikova K., Manning J.R., Walter P., Kolberg L., Samoviča M., Sakthivel M.P., Kuzmin I., Trevanion S.J. et al. A compendium of uniformly processed human gene expression and splicing quantitative trait loci. Nat. Genet. 2021; 53: 1290– 1299. 34493866 PMC8423625
- [26]Chunn L.M., Nefcy D.C., Scouten R.W., Tarpey R.P., Chauhan G., Lim M.S., Elenitoba-Johnson K.S.J., Schwartz S.A., Kiel M.J. Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation. Front. Genet. 2020; 11: 577152. 33281875 PMC7691534
- [27]Landrum M.J., Lee J.M., Riley G.R., Jang W., Rubinstein W.S., Church D.M., Maglott D.R. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res. 2014; 42: D980– D985. 24234437 PMC3965032
- [28]den Dunnen J.T., Dalgleish R., Maglott D.R., Hart R.K., Greenblatt M.S., McGowan-Jordan J., Roux A.-F., Smith T., Antonarakis S.E., Taschner P.E.M. HGVS Recommendations for the description of sequence variants: 2016 update. Hum. Mutat. 2016; 37: 564– 569. 26931183
- [29]Holmes J.B., Moyer E., Phan L., Maglott D., Kattman B. SPDI: data model for variants and applications at NCBI. Bioinformatics. 2020; 36: 1902– 1907. 31738401 PMC7523648
- [30]Sherry S.T., Ward M.H., Kholodov M., Baker J., Phan L., Smigielski E.M., Sirotkin K. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 2001; 29: 308– 311. 11125122 PMC29783
- [31]Alirezaie N., Kernohan K.D., Hartley T., Majewski J., Hocking T.D. ClinPred: prediction tool to identify disease-relevant nonsynonymous single-nucleotide variants. Am. J. Hum. Genet. 2018; 103: 474– 483. 30220433 PMC6174354
- [32]Sundaram L., Gao H., Padigepati S.R., McRae J.F., Li Y., Kosmicki J.A., Fritzilas N., Hakenberg J., Dutta A., Shon J. et al. Predicting the clinical impact of human mutation with deep neural networks. Nat. Genet. 2018; 50: 1161– 1170. 30038395 PMC6237276
- [33]PDBe-KB consortium PDBe-KB: a community-driven resource for structural and functional annotations. Nucleic Acids Res. 2020; 48: D344– D353. 31584092 PMC6943075
- [34]Yates A.D., Adams J., Chaturvedi S., Davies R.M., Laird M., Leinonen R., Nag R., Sheffield N.C., Hofmann O., Keane T.M. Refget: standardised access to reference sequences. Bioinformatics. 2021; btab524. 34260694 PMC8696098
- [35]Merkel D. Docker: lightweight Linux containers for consistent development and deployment. Linux J. 2014; 2014: 235.
Cited by
Sorted by citations
UniProt: the Universal Protein Knowledgebase in 2023
The UniProt Consortium, Bateman, A., Martin, M.-J., Orchard, S., Magrane, M., Ahmad, S., Alpi, E., Bowler-Barnett, E. H., Britto, R., Bye-A-Jee, H., et al. (2023) · Nucleic Acids Research · doi:10.1093/nar/gkac1052 · Cited by 7,210 · see citing works
Varadi, M., Bertoni, D., Magana, P., Paramval, U., Pidruchna, I., Radhakrishnan, M., Tsenkov, M., Nair, S., Mirdita, M., Yeo, J., et al. (2024) · Nucleic Acids Research · doi:10.1093/nar/gkad1011 · Cited by 2,052 · see citing works
The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource
Sollis, E., Mosaku, A., Abid, A., Buniello, A., Cerezo, M., Gil, L., Groza, T., Güneş, O., Hall, P., Hayhurst, J., et al. (2023) · Nucleic Acids Research · doi:10.1093/nar/gkac1010 · Cited by 1,641 · see citing works
Self-citationA draft human pangenome reference.
Liao, W.-W., Asri, M., Ebler, J., Doerr, D., Haukness, M., Hickey, G., Lu, S., Lucas, J. K., Monlong, J., Abel, H. J., et al. (2023) · Nature · doi:10.1038/s41586-023-05896-x · Cited by 1,129 · see citing works
Self-citationSpatially resolved multiomics of human cardiac niches
Kanemaru, K., Cranley, J., Muraro, D., Miranda, A. M. A., Ho, S. Y., Wilbrey-Clark, A., Patrick Pett, J., Polanski, K., Richardson, L., Litvinukova, M., et al. (2023) · Nature · doi:10.1038/s41586-023-06311-1 · Cited by 425 · see citing works
Clustering predicted structures at the scale of the known protein universe
Barrio-Hernandez, I., Yeo, J., Jänes, J., Mirdita, M., Gilchrist, C. L. M., Wein, T., Varadi, M., Velankar, S., Beltrao, P., & Steinegger, M. (2023) · Nature · doi:10.1038/s41586-023-06510-w · Cited by 362 · see citing works
Lung endothelium exploits susceptible tumor cell states to instruct metastatic latency
Jakab, M., Lee, K. H., Uvarovskii, A., Ovchinnikova, S., Kulkarni, S. R., Jakab, S., Rostalski, T., Spegg, C., Anders, S., & Augustin, H. G. (2024) · Nature Cancer · doi:10.1038/s43018-023-00716-7 · Cited by 39 · see citing works
CAVE: Connectome Annotation Versioning Engine
Dorkenwald, S., Schneider-Mizell, C. M., Brittain, D., Halageri, A., Jordan, C., Kemnitz, N., Castro, M. A., Silversmith, W., Maitin-Shephard, J., Troidl, J., et al. (2023) · doi:10.1101/2023.07.26.550598 · Cited by 79 · see citing works
“This trend is mirrored in other data-intensive fields such as genome sequencing 23 and large scale astronomy surveys 24 , where raw data is iteratively enriched as increasingly accurate and diverse sets of annotations are added.”
Efficient genetic editing of human intestinal organoids using ribonucleoprotein-based CRISPR
Skoufou-Papoutsaki, N., Adler, S., D'Santos, P., Mannion, L., Mehmed, S., Kemp, R., Smith, A., Perrone, F., Nayak, K., Russell, A., et al. (2023) · Disease Models & Mechanisms · doi:10.1242/dmm.050279 · Cited by 22 · see citing works
mGWAS-Explorer: Linking SNPs, Genes, Metabolites, and Diseases for Functional Insights
Chang, L., Zhou, G., Ou, H., & Xia, J. (2022) · Metabolites · doi:10.3390/metabo12060526 · Cited by 15 · see citing works
Celotti, M., Derks, L. L. M., van Es, J., van Boxtel, R., Clevers, H., & Geurts, M. H. (2024) · STAR Protocols · doi:10.1016/j.xpro.2024.103189 · Cited by 17 · see citing works
Crowl, S., Coleman, M. B., Chaphiv, A., Jordan, B. T., & Naegle, K. M. (2025) · Cell Systems · doi:10.1016/j.cels.2025.101318 · Cited by 10 · see citing works
Mapping of Pituitary Stress-Induced Gene Regulation Connects Nrcam to Negative Emotions
Olsen, M. B., Sannes, A.-C., Yang, K., Nielsen, M. B., Einarsen, S. V., Christensen, J. O., Pallesen, S., Bjørås, M., & Gjerstad, J. (2022) · iScience · doi:10.1016/j.isci.2022.104953 · Cited by 9 · see citing works
Ancient roots: A Cambrian explosion of autism susceptibility genes
Casanova, E. L. (2023) · Autism Research · doi:10.1002/aur.2984 · Cited by 5 · see citing works
A multiomics approach reveals RNA dynamics promote cellular sensitivity to DNA hypomethylation
Ge, A. Y., Arab, A., Dai, R., Navickas, A., Fish, L., Garcia, K., Asgharian, H., Goudreau, J., Lee, S., Keenan, K., et al. (2024) · Scientific Reports · doi:10.1038/s41598-024-77314-9 · Cited by 4 · see citing works
- Authors
- Cunningham, F., Allen, J. E., Allen, J., Alvarez-Jarreta, J., Amode, M. R., Armean, I. M., Austine-Orimoloye, O., Azov, A. G., Barnes, I., Bennett, R., Berry, A., Bhai, J., Bignell, A., Billis, K., Boddu, S., Brooks, L., Charkhchi, M., Cummins, C., Da Rin Fioretto, L., Davidson, C., Dodiya, K., Donaldson, S., El Houdaigui, B., El Naboulsi, T., Fatima, R., Giron, C. G., Genez, T., Martinez, J. G., Guijarro-Clarke, C., Gymer, A., Hardy, M., Hollis, Z., Hourlier, T., Hunt, T., Juettemann, T., Kaikala, V., Kay, M., Lavidas, I., Le, T., Lemos, D., Marugán, J. C., Mohanan, S., Mushtaq, A., Naven, M., Ogeh, D. N., Parker, A., Parton, A., Perry, M., Piližota, I., Prosovetskaia, I., Sakthivel, M. P., Salam, A. I. A., Schmitt, B. M., Schuilenburg, H., Sheppard, D., Pérez-Silva, J. G., Stark, W., Steed, E., Sutinen, K., Sukumaran, R., Sumathipala, D., Suner, M.-M., Szpak, M., Thormann, A., Tricomi, F. F., Urbina-Gómez, D., Veidenberg, A., Walsh, T. A., Walts, B., Willhoft, N., Winterbottom, A., Wass, E., Chakiachvili, M., Flint, B., Frankish, A., Giorgetti, S., Haggerty, L., Hunt, S. E., IIsley, G. R., Loveland, J. E., Martin, F. J., Moore, B., Mudge, J. M., Muffato, M., Perry, E., Ruffier, M., Tate, J., Thybert, D., Trevanion, S. J., Dyer, S., Harrison, P. W., Howe, K. L., Yates, A. D., Zerbino, D. R., & Flicek, P.
- Affiliations
- European Bioinformatics Institute (GB)
- European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK
- Corresponding author
- Flicek, Paul
- ORCID
- Cunningham, Fiona
- Allen, Jamie
- Armean, Irina M
- Austine-Orimoloye, Olanrewaju
- Azov, Andrey G
- Barnes, If
- Bennett, Ruth
- Berry, Andrew
- Bhai, Jyothish
- Bignell, Alexandra
- Billis, Konstantinos
- Boddu, Sanjay
- Brooks, Lucy
- Charkhchi, Mehrnaz
- Cummins, Carla
- Davidson, Claire
- Donaldson, Sarah
- Fatima, Reham
- Giron, Carlos Garcia
- Genez, Thiago
- Guijarro-Clarke, Cristina
- Gymer, Arthur
- Hardy, Matthew
- Hollis, Zoe
- Hourlier, Thibaut
- Hunt, Toby
- Juettemann, Thomas
- Kaikala, Vinay
- Kay, Mike
- Lavidas, Ilias
- Lemos, Diana
- Marugán, José Carlos
- Mohanan, Shamika
- Mushtaq, Aleena
- Ogeh, Denye N
- Parton, Andrew
- Perry, Malcolm
- Piližota, Ivana
- Sakthivel, Manoj Pandian
- Salam, Ahamed Imran Abdul
- Schmitt, Bianca M
- Schuilenburg, Helen
- Sheppard, Dan
- Pérez-Silva, José G
- Stark, William
- Steed, Emily
- Sukumaran, Ranjit
- Sumathipala, Dulika
- Suner, Marie-Marthe
- Thormann, Anja
- Tricomi, Francesca Floriana
- Urbina-Gómez, David
- Veidenberg, Andres
- Walsh, Thomas A
- Walts, Brandon
- Winterbottom, Andrea
- Wass, Elizabeth
- Chakiachvili, Marc
- Flint, Bethany
- Frankish, Adam
- Giorgetti, Stefano
- Haggerty, Leanne
- Hunt, Sarah E
- Loveland, Jane E
- Martin, Fergal J
- Moore, Benjamin
- Mudge, Jonathan M
- Muffato, Matthieu
- Perry, Emily
- Ruffier, Magali
- Tate, John
- Thybert, David
- Trevanion, Stephen J
- Dyer, Sarah
- Harrison, Peter W
- Howe, Kevin L
- Yates, Andrew D
- Zerbino, Daniel R
- Flicek, Paul
- Venue
- Nucleic Acids Research
- Publisher
- Oxford University Press (OUP)
- Published
- 2021-11-17
- Volume
- 50
- Issue
- D1
- Pages
- D988-D995
- ISSN
- 0305-1048 (ISSN-L)
- 1362-4962
- PMC
- PMC8728283
- OpenAlex
- W4200135473
- Cited by
- 1,923
- References
- 4
- Citations by year
- 2026: 171 · 2025: 263 · 2024: 596 · 2023: 706 · 2022: 185 · 2021: 2
- FWCI
- 122.75
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Nucleic Acids Research (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Funders
- Wellcome Trust (WT108749/Z/15/Z, WT104947/Z/14/Z, WT200990/Z/16/Z, WT201535/Z/16/Z, WT108749/Z/15/A, WT212925/Z/18/Z, WT218328/B/19/Z)
- National Human Genome Research Institute (U41HG007823, 2U41HG007234, U41HG010972, 2U24HG007497-05)
- Biotechnology and Biological Sciences Research Council (BB/N019563/1, BB/M011615/1, BB/S020152/1, BB/P016855/1, BB/S02011X/1, BB/P024602/1)
- British Council (414710385)
- European Molecular Biology Laboratory
- European Union's Horizon 2020 research and innovation programme (733161, 731060, 825575, 817923, 817998, 815668)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bioinformatics and Genomic Networks
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genetics, Bioinformatics, and Biomedical Research
- Keywords
- Ensembl, genome annotation, comparative genomics, vertebrate genomes, genomic data infrastructure
- MeSH terms
- Animals, Humans, Software, Genome, Computational Biology, Databases, Genetic, Molecular Sequence Annotation
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review