Contextualizing genetic risk score for disease screening and rare variant discovery

Studies of the genetic basis of complex traits have demonstrated a substantial role for common, small-effect variant polygenic burden (PB) as well as large-effect variants (LEV, primarily rare). We identify sufficient conditions in which GWAS-derived PB may be used for well-powered rare pathogenic v...

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Detalles Bibliográficos
Autores principales: Zhou, Dan, Yu, Dongmei, Scharf, Jeremiah M., Mathews, Carol A., McGrath, Lauren, Cook, Edwin, Lee, S. Hong, Davis, Lea K., Gamazon, Eric R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8292385/
https://www.ncbi.nlm.nih.gov/pubmed/34285202
http://dx.doi.org/10.1038/s41467-021-24387-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8292385/
https://www.ncbi.nlm.nih.gov/pubmed/34285202
http://dx.doi.org/10.1038/s41467-021-24387-z

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