[The secrets of variants].

Les secrets des variants - Chroniques génomiques.

Journal

Medecine sciences : M/S

ISSN: 1958-5381

Titre abrégé: Med Sci (Paris)

Pays: France

ID NLM: 8710980

Informations de publication

Date de publication:
Dec 2023

Historique:

medline: 18 12 2023

pubmed: 18 12 2023

entrez: 18 12 2023

Statut: ppublish

Résumé

Most sequence variants encountered in medical genetics are of unknown significance, and their interpretation is a major stumbling block. Building on the successful AlphaFold system, the DeepMind group at Google has built a tool that predicts the pathogenic potential of any substitution in the human proteome. This is a major achievement and will be an important asset in clinical genetics.

Identifiants

DOI: 10.1051/medsci/2023180 PMID: 38108730

pubmed: 38108730

doi: 10.1051/medsci/2023180

pii: msc230260

doi:

Types de publication

English Abstract Journal Article

Langues

fre

Sous-ensembles de citation

Pagination

981-983

Informations de copyright

Références

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Jordan B. Les tests génétiques grand public ont-ils une utilité clinique ?. Med Sci (Paris) 2012 ; 28 : 325–328.

Cheng J, Novati G, Pan J, et al. Predictions of AlphaMissense, version 1.0.0, Zenodo (2023); https://doi.org/10.5281/zenodo.8208688.

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