The status of the human gene catalogue

Paulo Amaral, Silvia Carbonell-Sala, Francisco M. Vega, Tiago Faial, Adam Frankish, Thomas Gingeras, Roderic Guigo, Jennifer L. Harrow, Artemis G. Hatzigeorgiou, Rory Johnson, Terence D. Murphy, Mihaela Pertea, Kim D. Pruitt, Shashikant Pujar, Hazuki Takahashi, Igor Ulitsky, Ales Varabyou, Christine A. Wells, Mark Yandell, Piero Carninci () and Steven L. Salzberg ()
Additional contact information
Paulo Amaral: INSPER Institute of Education and Research
Silvia Carbonell-Sala: Centre for Genomic Regulation (CRG)
Francisco M. Vega: Stanford University School of Medicine
Tiago Faial: Nature Genetics
Adam Frankish: European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus
Thomas Gingeras: Cold Spring Harbor Laboratory
Roderic Guigo: Centre for Genomic Regulation (CRG)
Jennifer L. Harrow: Centre for Genomics Research, Discovery Sciences, AstraZeneca
Artemis G. Hatzigeorgiou: Universithy of Thessaly
Rory Johnson: University College Dublin
Terence D. Murphy: National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health
Mihaela Pertea: Johns Hopkins University
Kim D. Pruitt: National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health
Shashikant Pujar: National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health
Hazuki Takahashi: RIKEN Center for Integrative Medical Sciences
Igor Ulitsky: Weizmann Institute of Science
Ales Varabyou: Johns Hopkins University
Christine A. Wells: The University of Melbourne
Mark Yandell: University of Utah
Piero Carninci: RIKEN Center for Integrative Medical Sciences
Steven L. Salzberg: Johns Hopkins University

Nature, 2023, vol. 622, issue 7981, 41-47

Abstract: Abstract Scientists have been trying to identify every gene in the human genome since the initial draft was published in 2001. In the years since, much progress has been made in identifying protein-coding genes, currently estimated to number fewer than 20,000, with an ever-expanding number of distinct protein-coding isoforms. Here we review the status of the human gene catalogue and the efforts to complete it in recent years. Beside the ongoing annotation of protein-coding genes, their isoforms and pseudogenes, the invention of high-throughput RNA sequencing and other technological breakthroughs have led to a rapid growth in the number of reported non-coding RNA genes. For most of these non-coding RNAs, the functional relevance is currently unclear; we look at recent advances that offer paths forward to identifying their functions and towards eventually completing the human gene catalogue. Finally, we examine the need for a universal annotation standard that includes all medically significant genes and maintains their relationships with different reference genomes for the use of the human gene catalogue in clinical settings.

Date: 2023
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DOI: 10.1038/s41586-023-06490-x

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