ArticlePLoS genetics2016
Integrative Tissue-Specific Functional Annotations in the Human Genome Provide Novel Insights on Many Complex Traits and Improve Signal Prioritization in Genome Wide Association Studies.
Article in PLoS genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 3 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
57 citing papers in PubMed, 3 syntheses or guidelines pooled it, 104 citations in OpenAlex.
- ANNORE: genetic fine-mapping with functional annotation.Human molecular genetics · 2021Pooled it
- Polygenic Scores for ADHD: A Meta-Analysis.Research on child and adolescent psychopathology · 2021Pooled it
- A Review of Statistical Methods for Identifying Trait-Relevant Tissues and Cell Types.Frontiers in genetics · 2020Pooled it
- Genetic risk factor identification for common epilepsies guided by integrative omics data analysis.Epilepsia · 2026Article
- A Genetic Risk Prediction Model for Coronary Artery Disease Integrating CYP17A1 Polymorphisms and Clinical Variables in a Chinese Population.International journal of general medicine · 2026Article
- Robust pleiotropy-decomposed polygenic scores identify distinct contributions to elevated coronary artery disease polygenic risk.PLoS computational biology · 2025Article
- Disease-specific prioritization of non-coding GWAS variants based on chromatin accessibility.HGG advances · 2024Article
- eQTL studies: from bulk tissues to single cells.Journal of genetics and genomics = Yi chuan xue bao · 2023Review
- multi-GPA-Tree: Statistical approach for pleiotropy informed and functional annotation tree guided prioritization of GWAS results.PLoS computational biology · 2023Article
- Evaluating 17 methods incorporating biological function with GWAS summary statistics to accelerate discovery demonstrates a tradeoff between high sensitivity and high positive predictive value.Communications biology · 2023Article
- XMAP: Cross-population fine-mapping by leveraging genetic diversity and accounting for confounding bias.Nature communications · 2023Article
- Investigating the tissue specificity and prognostic impact of cis-regulatory cancer risk variants.Human genetics · 2023Article
- Investigation of convergent and divergent genetic influences underlying schizophrenia and alcohol use disorder.Psychological medicine · 2023Article
- eQTL Studies: from Bulk Tissues to Single Cells.ArXiv · 2023Article
- graph-GPA 2.0: improving multi-disease genetic analysis with integration of functional annotation data.Frontiers in genetics · 2023Article
- Liver-Specific Polygenic Risk Score Is Associated with Alzheimer's Disease Diagnosis.Journal of Alzheimer's disease : JAD · 2023Article
- Leveraging omics data to boost the power of genome-wide association studies.HGG advances · 2022Article
- A quantile integral linear model to quantify genetic effects on phenotypic variability.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Leveraging the local genetic structure for trans-ancestry association mapping.American journal of human genetics · 2022Article
- Integrating variant functional annotation scores have varied abilities to improve power of genome-wide association studies.Scientific reports · 2022Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Extensive efforts have been made to understand genomic function through both experimental and computational approaches, yet proper annotation still remains challenging, especially in non-coding regions. In this manuscript, we introduce GenoSkyline, an unsupervised learning framework to predict tissue-specific functional regions through integrating high-throughput epigenetic annotations. GenoSkyline successfully identified a variety of non-coding regulatory machinery including enhancers, regulatory miRNA, and hypomethylated transposable elements in extensive case studies. Integrative analysis of GenoSkyline annotations and results from genome-wide association studies (GWAS) led to novel biological insights on the etiologies of a number of human complex traits. We also explored using tissue-specific functional annotations to prioritize GWAS signals and predict relevant tissue types for each risk locus. Brain and blood-specific annotations led to better prioritization performance for schizophrenia than standard GWAS p-values and non-tissue-specific annotations. As for coronary artery disease, heart-specific functional regions was highly enriched of GWAS signals, but previously identified risk loci were found to be most functional in other tissues, suggesting a substantial proportion of still undetected heart-related loci. In summary, GenoSkyline annotations can guide genetic studies at multiple resolutions and provide valuable insights in understanding complex diseases. GenoSkyline is available at http://genocanyon.med.yale.edu/GenoSkyline.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.