ArticleNature communications2018
Distinct epigenomic patterns are associated with haploinsufficiency and predict risk genes of developmental disorders.
Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed.
- Leveraging human genetic variation to therapeutically target hundreds of genes with dominant & dispensable disease alleles.medRxiv : the preprint server for health sciences · 2026Article
- Gene4Denovo2: an updated platform for human de novo mutations discovery and interpretation.Nucleic acids research · 2026Article
- Recalibrating differential gene expression by genetic dosage variance prioritizes functionally relevant genes.Genome research · 2025Article
- Model-guided design of microRNA-based gene circuits supports precise dosage of transgenic cargoes into diverse primary cells.Cell systems · 2025Article
- Ensemble and consensus approaches to prediction of recessive inheritance for missense variants in human disease.Cell reports methods · 2024Article
- Misexpression of inactive genes in whole blood is associated with nearby rare structural variants.American journal of human genetics · 2024Article
- Model-guided design of microRNA-based gene circuits supports precise dosage of transgenic cargoes into diverse primary cells.bioRxiv : the preprint server for biology · 2024Article
- An unsupervised deep learning framework for predicting human essential genes from population and functional genomic data.BMC bioinformatics · 2023Article
- NeuroCNVscore: a tissue-specific framework to prioritise the pathogenicity of CNVs in neurodevelopmental disorders.BMJ paediatrics open · 2023Article
- dbCNV: deleteriousness-based model to predict pathogenicity of copy number variations.BMC genomics · 2023Article
- Translational enhancement by base editing of the Kozak sequence rescues haploinsufficiency.Nucleic acids research · 2022Article
- Nested epistasis enhancer networks for robust genome regulation.Science (New York, N.Y.) · 2022Article
- Article
- X-CNV: genome-wide prediction of the pathogenicity of copy number variations.Genome medicine · 2021Article
- Candesartan treatment enhances liposome penetration and anti-tumor effect via depletion of tumor stroma and normalization of tumor vessel.Drug delivery and translational research · 2021Article
- GPCards: An integrated database of genotype-phenotype correlations in human genetic diseases.Computational and structural biotechnology journal · 2021Article
- Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing.European journal of human genetics : EJHG · 2021Article
- Targeting the Transcriptome Through Globally Acting Components.Frontiers in genetics · 2021Review
- Gene4HL: An Integrated Genetic Database for Hearing Loss.Frontiers in genetics · 2021Article
- Promoter CpG Density Predicts Downstream Gene Loss-of-Function Intolerance.American journal of human genetics · 2020Article
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6 authors.
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Abstract
Haploinsufficiency is a major mechanism of genetic risk in developmental disorders. Accurate prediction of haploinsufficient genes is essential for prioritizing and interpreting deleterious variants in genetic studies. Current methods based on mutation intolerance in population data suffer from inadequate power for genes with short transcripts. Here we show haploinsufficiency is strongly associated with epigenomic patterns, and develop a computational method (Episcore) to predict haploinsufficiency leveraging epigenomic data from a broad range of tissue and cell types by machine learning methods. Based on data from recent exome sequencing studies on developmental disorders, Episcore achieves better performance in prioritizing likely-gene-disrupting (LGD) de novo variants than current methods. We further show that Episcore is less-biased by gene size, and complementary to mutation intolerance metrics for prioritizing LGD variants. Our approach enables new applications of epigenomic data and facilitates discovery and interpretation of novel risk variants implicated in developmental disorders.
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