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; ... (24 March 2023). The status of the human gene catalogue. (arXiv). Cornell University

[img] Text
nihpp-2303.13996v1.pdf - Published Version
Restricted to registered users only
Available under License Publisher holds Copyright.

Download (322kB) | Request a copy

Scientists have been trying to identify all of the genes in the human genome since the initial draft of the genome was published in 2001. Over the intervening years, much progress has been made in identifying protein-coding genes, and the estimated number has shrunk to fewer than 20,000, although the number of distinct protein-coding isoforms has expanded dramatically. The invention of high-throughput RNA sequencing and other technological breakthroughs have led to an explosion in the number of reported non-coding RNA genes, although most of them do not yet have any known function. A combination of recent advances offers a path forward to identifying these functions and towards eventually completing the human gene catalogue. However, much work remains to be done before we have a universal annotation standard that includes all medically significant genes, maintains their relationships with different reference genomes, and describes clinically relevant genetic variants.

Item Type:

Working Paper


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




Cornell University




Teuta Bytyqi

Date Deposited:

18 Dec 2023 17:31

Last Modified:

18 Dec 2023 17:31

PubMed ID:





Actions (login required)

Edit item Edit item
Provide Feedback