Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders
Abstract Recent work has revealed an important role for rare, incompletely penetrant inherited coding variants in neurodevelopmental disorders (NDDs). Additionally, we have previously shown that common variants contribute to risk for rare NDDs. Here, we investigate whether common variants exert thei...
Main Authors: | Emilie M. Wigdor, Kaitlin E. Samocha, Ruth Y. Eberhardt, V. Kartik Chundru, Helen V. Firth, Caroline F. Wright, Matthew E. Hurles, Hilary C. Martin |
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Format: | Article |
Language: | English |
Published: |
Nature Portfolio
2024-04-01
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Series: | Scientific Reports |
Online Access: | https://doi.org/10.1038/s41598-024-58894-y |
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