Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic records

PURPOSE: To identify conditions that are candidates for population genetic screening based on population prevalence, penetrance of rare variants, and actionability. METHODS: We analyzed exome and medical record data from >220,000 participants across two large population health cohorts with differ...

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Detalles Bibliográficos
Autores principales: Schiabor Barrett, Kelly M., Bolze, Alexandre, Ni, Yunyun, White, Simon, Isaksson, Magnus, Sharma, Lavania, Levin, Elissa, Lee, William, Grzymski, Joseph J., Lu, James T., Washington, Nicole L., Cirulli, Elizabeth T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8629756/
https://www.ncbi.nlm.nih.gov/pubmed/34385667
http://dx.doi.org/10.1038/s41436-021-01293-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8629756/
https://www.ncbi.nlm.nih.gov/pubmed/34385667
http://dx.doi.org/10.1038/s41436-021-01293-9

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