A joint NCBI and EMBL-EBI transcript set for clinical genomics and research.
Journal
Nature
ISSN: 1476-4687
Titre abrégé: Nature
Pays: England
ID NLM: 0410462
Informations de publication
Date de publication:
04 2022
04 2022
Historique:
received:
13
07
2021
accepted:
07
02
2022
pubmed:
8
4
2022
medline:
16
4
2022
entrez:
7
4
2022
Statut:
ppublish
Résumé
Comprehensive genome annotation is essential to understand the impact of clinically relevant variants. However, the absence of a standard for clinical reporting and browser display complicates the process of consistent interpretation and reporting. To address these challenges, Ensembl/GENCODE
Identifiants
pubmed: 35388217
doi: 10.1038/s41586-022-04558-8
pii: 10.1038/s41586-022-04558-8
pmc: PMC9007741
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
310-315Subventions
Organisme : Wellcome Trust
ID : WT108749/Z/15/Z
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_PC_19024
Pays : United Kingdom
Organisme : Wellcome Trust
ID : WT200990/A/16/Z
Pays : United Kingdom
Organisme : NHGRI NIH HHS
ID : U41 HG007234
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG007234
Pays : United States
Organisme : Wellcome Trust
ID : WT200990/Z/16/Z
Pays : United Kingdom
Organisme : Wellcome Trust
Pays : United Kingdom
Informations de copyright
© 2022. This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply.
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