The status of the human gene catalogue

Página do item simplificado
dc.contributor.authorPAULO DE PAIVA ROSA AMARAL
dc.contributor.authorCarbonell-Sala, Silvia
dc.contributor.authorDe La Vega, Francisco M.
dc.contributor.authorFaial, Tiago
dc.contributor.authorFrankish, Adam
dc.contributor.authorGingeras, Thomas
dc.contributor.authorGuigo, Roderic
dc.contributor.authorHarrow, Jennifer L.
dc.contributor.authorHatzigeorgiou, Artemis G.
dc.contributor.authorJohnson, Rory
dc.contributor.authorMurphy, Terence D.
dc.contributor.authorPertea, Mihaela
dc.contributor.authorPruitt, Kim D.
dc.contributor.authorPujar, Shashikant
dc.contributor.authorTakahashi, Hazuki
dc.contributor.authorUlitsky, Igor
dc.contributor.authorVarabyou, Ales
dc.contributor.authorWells, Christine A.
dc.contributor.authorYandell, Mark
dc.contributor.authorCarninci, Piero
dc.contributor.authorSalzberg, Steven L.
dc.creatorCarbonell-Sala, Silvia
dc.creatorDe La Vega, Francisco M.
dc.creatorFaial, Tiago
dc.creatorFrankish, Adam
dc.creatorGingeras, Thomas
dc.creatorGuigo, Roderic
dc.creatorHarrow, Jennifer L.
dc.creatorHatzigeorgiou, Artemis G.
dc.creatorJohnson, Rory
dc.creatorMurphy, Terence D.
dc.creatorPertea, Mihaela
dc.creatorPruitt, Kim D.
dc.creatorPujar, Shashikant
dc.creatorTakahashi, Hazuki
dc.creatorUlitsky, Igor
dc.creatorVarabyou, Ales
dc.creatorWells, Christine A.
dc.creatorYandell, Mark
dc.creatorCarninci, Piero
dc.creatorSalzberg, Steven L.
dc.date.accessioned2024-05-21T17:28:03Z
dc.date.available2024-05-21T17:28:03Z
dc.date.issued2023
dc.description.abstractScientists 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.pt
dc.formatDigital
dc.format.extentp. 41–47
dc.identifier.doi10.1038/s41586-023-06490-x
dc.identifier.issn1476-4687
dc.identifier.issn0028-0836
dc.identifier.urihttps://repositorio.insper.edu.br/handle/11224/6666
dc.language.isoen
dc.publisherSpringer Nature
dc.titleThe status of the human gene catalogue
dspace.entity.typePublication
local.publisher.countryNão Informado
local.subject.cnpqCIENCIAS BIOLOGICAS
publicationvolume.volumeNumber622
relation.isAuthorOfPublication90769ac2-5975-4a9d-8316-ee9653a944bd
relation.isAuthorOfPublication.latestForDiscovery90769ac2-5975-4a9d-8316-ee9653a944bd
Arquivos
Pacote Original
Agora exibindo 1 - 2 de 2
N/D
Nome:
Artigo_2023_The_status_of_the_human_gene_catalogue_TC.pdf
Tamanho:
1.58 MB
Formato:
Adobe Portable Document Format
Baixar
Imagem de Miniatura
Nome:
Acesso_Primeira Pagina_The status of the human gene catalogue.pdf
Tamanho:
715.86 KB
Formato:
Adobe Portable Document Format
Baixar
Licença do Pacote
Agora exibindo 1 - 1 de 1
N/D
Nome:
license.txt
Tamanho:
236 B
Formato:
Item-specific license agreed upon to submission
Descrição:
Baixar
Coleções
Coleção de Artigos Acadêmicos