dc.contributor.author | Jordan, Bertrand | - |
dc.date.accessioned | 2022-10-17T15:08:38Z | |
dc.date.available | 2022-10-17T15:08:38Z | |
dc.date.issued | 2021 | |
dc.identifier.citation | Jordan, Bertrand ; Nos défauts génétiques cachés : Chroniques génomiques, Med Sci (Paris), Vol. 37, N° 6-7 ; p. 663-670 ; DOI : 10.1051/medsci/2021079 | |
dc.identifier.issn | 1958-5381 | |
dc.identifier.uri | http://hdl.handle.net/10608/11865 | |
dc.description.abstract | A systematic study analysing the exomes of several thousand individuals indicates that each of them carries at least one strongly deleterious mutation that is innocuous in a heterozygote but results in a severe phenotype in the homozygous state. Most of these mutations are very rare, while a few are present in 1 or 2% of the population. The frequency of at-risk couples is approximately 1.5%, but increases dramatically to 25% if the partners of the couple are first cousins. This work has important implications for carrier screening and population genetics in general. | 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. 37, N° 6-7; p. 663-670 | |
dc.subject.mesh | Exome | fr |
dc.subject.mesh | Dépistage des porteurs génétiques | fr |
dc.subject.mesh | Dépistage génétique | fr |
dc.subject.mesh | Hétérozygote | fr |
dc.subject.mesh | Homozygote | fr |
dc.subject.mesh | Humains | fr |
dc.subject.mesh | Mutation | fr |
dc.subject.mesh | Phénotype | fr |
dc.title | Chroniques génomiques - Nos défauts génétiques cachés | fr |
dc.title.alternative | Our hidden genetic defects | en |
dc.type | Article | |
dc.contributor.affiliation | UMR 7268 ADÉS, Aix-Marseille, Université /EFS/CNRS ; CoReBio PACA, case 901, Parc scientifique de Luminy , 13288 Marseille Cedex 09 , France | |
dc.identifier.doi | 10.1051/medsci/2021079 | |
dc.identifier.pmid | 34180829 | |