Actionable Variants Identified by Genome Sequencing: Penetrance and Outcomes at 1-year Following Return to Participants

PURPOSE: We estimated penetrance of actionable genetic variants and assessed near-term outcomes following return of results (RoR). METHODS: Participants (n=2535) with hypercholesterolemia and/or colon polyps underwent targeted sequencing of 68 genes and 14 single nucleotide variants. Penetrance was...

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Detalles Bibliográficos
Autores principales: Lee, Christopher, Elsekaily, Omar, Kochan, David C., Alhalabi, Lubna, Faizee, Faizan, Sharp, Richard, Lindor, Noralane M., Kullo, Iftikhar J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9839314/
https://www.ncbi.nlm.nih.gov/pubmed/33824501
http://dx.doi.org/10.1038/s41436-021-01142-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9839314/
https://www.ncbi.nlm.nih.gov/pubmed/33824501
http://dx.doi.org/10.1038/s41436-021-01142-9

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