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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2022
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| Materias: | |
| 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 |