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Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk
Coding variants represent many of the strongest associations between genotype and phenotype, however they exhibit inter-individual differences in effect, termed variable penetrance. Here, we study how cis-regulatory variation modifies the penetrance of coding variants. Using functional genomic and g...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6119105/ https://www.ncbi.nlm.nih.gov/pubmed/30127527 http://dx.doi.org/10.1038/s41588-018-0192-y |