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GENCODE 2025: reference gene annotation for human and mouse

Title: GENCODE 2025: reference gene annotation for human and mouse
Authors: Mudge, Jonathan M; Carbonell-Sala, Sílvia; Diekhans, Mark; Martinez, Jose Gonzalez; Hunt, Toby; Jungreis, Irwin; Loveland, Jane E; Arnan, Carme; Barnes, If; Bennett, Ruth; Berry, Andrew; Bignell, Alexandra; Cerdán-Vélez, Daniel; Cochran, Kelly; Cortés, Lucas T; Davidson, Claire; Donaldson, Sarah; Dursun, Cagatay; Fatima, Reham; Hardy, Matthew; Hebbar, Prajna; Hollis, Zoe; James, Benjamin T; Jiang, Yunzhe; Johnson, Rory; Kaur, Gazaldeep; Kay, Mike; Mangan, Riley J; Maquedano, Miguel; Gómez, Laura Martínez; Mathlouthi, Nourhen; Merritt, Ryan; Ni, Pengyu; Palumbo, Emilio; Perteghella, Tamara; Pozo, Fernando; Raj, Shriya; Sisu, Cristina; Steed, Emily; Sumathipala, Dulika; Suner, Marie-Marthe; Uszczynska-Ratajczak, Barbara; Wass, Elizabeth; Yang, Yucheng T; Zhang, Dingyao; Finn, Robert D; Gerstein, Mark; Guigó, Roderic; Hubbard, Tim JP; Kellis, Manolis; Kundaje, Anshul; Paten, Benedict; Tress, Michael L; Birney, Ewan; Martin, Fergal J; Frankish, Adam
Source: Nucleic Acids Research, vol 53, iss D1
Publisher Information: eScholarship, University of California
Publication Year: 2025
Collection: University of California: eScholarship
Subject Terms: 31 Biological Sciences (for-2020); 3102 Bioinformatics and Computational Biology (for-2020); 3105 Genetics (for-2020); Genetics (rcdc); Biotechnology (rcdc); Human Genome (rcdc); 1.5 Resources and infrastructure (underpinning) (hrcs-rac); Generic health relevance (hrcs-hc); Mice (mesh); Animals (mesh); Molecular Sequence Annotation (mesh); Humans (mesh); Software (mesh); Databases; Genetic (mesh); Genomics (mesh); Transcriptome (mesh); Genome (mesh); RNA; Long Noncoding (mesh); 05 Environmental Sciences (for); 06 Biological Sciences (for); 08 Information and Computing Sciences (for); Developmental Biology (science-metrix); 34 Chemical sciences (for-2020)
Subject Geographic: d966 - d975
Description: GENCODE produces comprehensive reference gene annotation for human and mouse. Entering its twentieth year, the project remains highly active as new technologies and methodologies allow us to catalog the genome at ever-increasing granularity. In particular, long-read transcriptome sequencing enables us to identify large numbers of missing transcripts and to substantially improve existing models, and our long non-coding RNA catalogs have undergone a dramatic expansion and reconfiguration as a result. Meanwhile, we are incorporating data from state-of-the-art proteomics and Ribo-seq experiments to fine-tune our annotation of translated sequences, while further insights into function can be gained from multi-genome alignments that grow richer as more species' genomes are sequenced. Such methodologies are combined into a fully integrated annotation workflow. However, the increasing complexity of our resources can present usability challenges, and we are resolving these with the creation of filtered genesets such as MANE Select and GENCODE Primary. The next challenge is to propagate annotations throughout multiple human and mouse genomes, as we enter the pangenome era. Our resources are freely available at our web portal www.gencodegenes.org, and via the Ensembl and UCSC genome browsers.
Document Type: article in journal/newspaper
File Description: application/pdf
Language: unknown
Relation: qt32v2p12s; https://escholarship.org/uc/item/32v2p12s; https://escholarship.org/content/qt32v2p12s/qt32v2p12s.pdf
DOI: 10.1093/nar/gkae1078
Availability: https://escholarship.org/uc/item/32v2p12s; https://escholarship.org/content/qt32v2p12s/qt32v2p12s.pdf; https://doi.org/10.1093/nar/gkae1078
Rights: CC-BY
Accession Number: edsbas.7A38D8F0
Database: BASE