Polygenic risk scores of endo-phenotypes identify the effect of genetic background in congenital heart disease

Congenital heart disease (CHD) is a rare structural defect that occurs in ∼1% of live births. Studies on CHD genetic architecture have identified pathogenic single-gene mutations in less than 30% of cases. Single-gene mutations often show incomplete penetrance and variable expressivity. Therefore, w...

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Detalles Bibliográficos
Autores principales: Spendlove, Sarah J., Bondhus, Leroy, Lluri, Gentian, Sul, Jae Hoon, Arboleda, Valerie A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9118152/
https://www.ncbi.nlm.nih.gov/pubmed/35599848
http://dx.doi.org/10.1016/j.xhgg.2022.100112

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9118152/
https://www.ncbi.nlm.nih.gov/pubmed/35599848
http://dx.doi.org/10.1016/j.xhgg.2022.100112

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