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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

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