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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 g ....

Puerto Rico , United States , Puerto Rican , Human Services , Encode Project Consortium , Rnacentral Consortium , Gtex Consortium , Us Department Of Health , Us Department Of Energy , International Human Genome Sequencing Consortium , Uniprot Consortium , Genetic Inheritance , Genome Project , First Five Years , Encode Project , Acids Res , Human Genome Sequencing , Genome Biol , Cell Biol , Ensembl Variant Effect Predictor A , Southern Han Chinese , Nucleic Acids Res ,