Chroniques génomiques - Les secrets des variants

Jordan, Bertrand

doi:10.1051/medsci/2023180

dc.contributor.author	Jordan, Bertrand	-
dc.date.accessioned	2024-01-08T10:57:32Z
dc.date.available	2024-01-08T10:57:32Z
dc.date.issued	2023
dc.identifier.citation	Jordan, Bertrand ; Les secrets des variants : Chroniques génomiques, Med Sci (Paris), Vol. 39, N° 12 ; p. 981-983 ; DOI : 10.1051/medsci/2023180
dc.identifier.issn	1958-5381
dc.identifier.uri	http://hdl.handle.net/10608/14641
dc.description.abstract	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.	en
dc.language.iso	fr
dc.publisher	EDP Sciences
dc.relation.ispartof	Forum
dc.rights	Article en libre accès - License CC BY 4.0	fr
dc.rights	Médecine/Sciences - Inserm - SRMS	fr
dc.rights.uri	http://creativecommons.org/licenses/by/4.0
dc.source	M/S. Médecine sciences [ISSN papier : 0767-0974 ; ISSN numérique : 1958-5381], Vol. 39, N° 12; p. 981-983
dc.subject.mesh	Humains	fr
dc.subject.mesh	Protéome	fr
dc.subject.mesh	Génétique médicale	fr
dc.title	Chroniques génomiques - Les secrets des variants	fr
dc.title.alternative	The secrets of variants	en
dc.type	Article
dc.contributor.affiliation	Biologiste, généticien et immunologiste, Président d’Aprogène (Association pour la promotion de la Génomique) , 13007 Marseille , France
dc.identifier.doi	10.1051/medsci/2023180
dc.identifier.pmid	38108730