The status of the human gene catalogue.
Level 5 - mechanism / opinion, no new human data
Narrative review without systematic methodology (Oxford CEBM Level 5)
PubMed 37794265 · doi:10.1038/s41586-023-06490-x
What was done
The authors reviewed the progress and current status of annotating the human gene catalogue since the 2001 draft human genome, focusing on protein-coding genes, isoforms, pseudogenes, non-coding RNA genes, functional validation approaches, and clinical annotation standards.
What was found
Protein-coding genes are currently estimated to number fewer than 20,000, with an expanding repertoire of distinct protein-coding isoforms. High-throughput RNA sequencing has driven rapid growth in reported non-coding RNA genes, though functional relevance for most remains unclear. Aside from the estimate of fewer than 20,000 protein-coding genes, the abstract reports no numerical data.
Why it matters
Completing an accurate human gene catalogue and establishing universal annotation standards across reference genomes is essential for translating genomic discoveries into clinical diagnostics and care.
Limits
This is a narrative review rather than a systematic review. The abstract provides no specific quantitative counts for non-coding RNAs, isoforms, or pseudogenes, and presents qualitative assessments without empirical benchmarking data.
Cited by
- supports The human genome contains approximately 20,000 genes.