Population genetic screening efficiently identifies carriers of autosomal dominant diseases.
Journal
Nature medicine
ISSN: 1546-170X
Titre abrégé: Nat Med
Pays: United States
ID NLM: 9502015
Informations de publication
Date de publication:
08 2020
08 2020
Historique:
received:
14
05
2019
accepted:
12
06
2020
pubmed:
29
7
2020
medline:
29
10
2020
entrez:
29
7
2020
Statut:
ppublish
Résumé
Three inherited autosomal dominant conditions-BRCA-related hereditary breast and ovarian cancer (HBOC), Lynch syndrome (LS) and familial hypercholesterolemia (FH)-have been termed the Centers for Disease Control and Prevention Tier 1 (CDCT1) genetic conditions, for which early identification and intervention have a meaningful potential for clinical actionability and a positive impact on public health
Identifiants
pubmed: 32719484
doi: 10.1038/s41591-020-0982-5
pii: 10.1038/s41591-020-0982-5
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1235-1239Références
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