Distinct Epigenomic Patterns Are Associated with Haploinsufficiency and Predict Risk Genes of Developmental Disorders
Xinwei Han, Siying Chen, Elise D. Flynn, Shuang Wu, Dana Wintner, Yufeng Shen
The paper develops Episcore, a method using epigenomic data to predict haploinsufficient genes, showing improved performance over existing methods in prioritizing loss of function variants in developmental disorders.
Nature Communications · May 24, 2018Peer-reviewedGenomics