Incidental Medical Information in Whole-Exome Sequencing
Rattachement africain : de, us. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
Genomic technologies, such as whole-exome sequencing, are a powerful tool in genetic research. Such testing yields a great deal of incidental medical information, or medical information not related to the primary research target. We describe the management of incidental medical information derived from whole-exome sequencing in the research context. We performed whole-exome sequencing on a monozygotic twin pair in which only 1 child was affected with congenital anomalies and applied an institutional review board-approved algorithm to determine what genetic information would be returned. Whole-exome sequencing identified 79525 genetic variants in the twins. Here, we focus on novel variants. After filtering artifacts and excluding known single nucleotide polymorphisms and variants not predicted to be pathogenic, the twins had 32 novel variants in 32 genes that were felt to be likely to be associated with human disease. Eighteen of these novel variants were associated with recessive disease and 18 were associated with dominantly manifesting conditions (variants in some genes were potentially associated with both recessive and dominant conditions), but only 1 variant ultimately met our institutional review board-approved criteria for return of information to the research participants.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Incidental Medical Information in Whole-Exome Sequencing
- Date Crossref
- 01/06/2012
- Éditeur
- American Academy of Pediatrics (AAP)
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
-
Medical Genetics Center pays non établi dans la noticeÉtablissement de santé
-
Office of the Director pays non établi dans la noticeOrganisme public
-
National Institutes of Health pays non établi dans la noticeOrganisme public
-
National Human Genome Research Institute Cancer Genetics Branch pays non établi dans la noticeStructure de recherche
-
Cancer Genetics (United States) pays non établi dans la noticeEntreprise
-
Medical Genetics Branch pays non établi dans la noticeInstitution
-
Social and Behavioral Research Branch pays non établi dans la noticeInstitution
-
Genome Technology Branch pays non établi dans la noticeInstitution
-
Genetic Disease Research Branch pays non établi dans la noticeInstitution
-
Clinical Center Department of Bioethics pays non établi dans la noticeÉtablissement de santé
Medical Genetics Center, Office of the Director et National Institutes of Health, avec 7 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.