GenomicsNature CommunicationsPeer-reviewed
Distinct Epigenomic Patterns Are Associated with Haploinsufficiency and Predict Risk Genes of Developmental Disorders
Xinwei Han, Siying Chen, Elise D. Flynn…·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.
40 citations