Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders

Rare genetic disorders (RGDs) often exhibit significant clinical variability among affected individuals, a disease characteristic termed variable expressivity. Recently, the aggregate effect of common variation, quantified as polygenic scores (PGSs), has emerged as an effective tool for predictions...

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Detalles Bibliográficos
Autores principales: Oetjens, M. T., Kelly, M. A., Sturm, A. C., Martin, C. L., Ledbetter, D. H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6814771/
https://www.ncbi.nlm.nih.gov/pubmed/31653860
http://dx.doi.org/10.1038/s41467-019-12869-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6814771/
https://www.ncbi.nlm.nih.gov/pubmed/31653860
http://dx.doi.org/10.1038/s41467-019-12869-0

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