The status of the human gene catalogue.

Amaral, Paulo; Carbonell-Sala, Silvia; De La Vega, Francisco M; Faial, Tiago; Frankish, Adam; Gingeras, Thomas; Guigo, Roderic; Harrow, Jennifer L; Hatzigeorgiou, Artemis G; Johnson, Rory; Murphy, Terence D; Pertea, Mihaela; Pruitt, Kim D; Pujar, Shashikant; Takahashi, Hazuki; Ulitsky, Igor; Varabyou, Ales; Wells, Christine A; Yandell, Mark; Carninci, Piero; ... (2023). The status of the human gene catalogue. Nature, 622(7981), pp. 41-47. Springer Nature 10.1038/s41586-023-06490-x

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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.

Item Type:

Journal Article (Review Article)


04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Clinic of Medical Oncology
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR)

UniBE Contributor:

Johnson, Rory Baldwin


600 Technology > 610 Medicine & health




Springer Nature




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Date Deposited:

05 Oct 2023 13:56

Last Modified:

05 Oct 2023 14:25

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