ArticleScientific reports2015
A statistical framework to predict functional non-coding regions in the human genome through integrated analysis of annotation data.
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 129 papers, 2 of them syntheses that pooled it.
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Who cites it
129 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- GhostKnockoff inference empowers identification of putative causal variants in genome-wide association studies.Nature communications · 2022Pooled it
- ANNORE: genetic fine-mapping with functional annotation.Human molecular genetics · 2021Pooled it
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- SomaMutDB 2.0: A comprehensive database for exploring somatic mutations and their functional impact in normal human tissues.Nucleic acids research · 2026Article
- Association between Alzheimer's disease-related genes and neurodegenerative blood-based biomarkers in Indian adults.Frontiers in aging neuroscience · 2026Article
- Clinical description, genetic analysis and characterization of two NLRP12 heterozygous VUS variants.Frontiers in immunology · 2026Article
- MutAnt: mutation annotation tool predicts deleteriousness of missense mutations and improves mutation calling from transcriptomics.Human genetics · 2025Article
- Expanding the utility of variant effect predictions with phenotype-specific models.Nature communications · 2025Article
- Endogenous fine-mapping and prioritization of functional regulatory elements in complex genetic loci.Cell genomics · 2025Article
- Assessing the performance of 28 pathogenicity prediction methods on rare single nucleotide variants in coding regions.BMC genomics · 2025Article
- Robust pleiotropy-decomposed polygenic scores identify distinct contributions to elevated coronary artery disease polygenic risk.PLoS computational biology · 2025Article
- PRP: pathogenic risk prediction for rare nonsynonymous single nucleotide variants.Human genetics · 2025Article
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- Novel WAC gene variant identified in the first documented case of DeSanto-Shinawi Syndrome in India.Molecular and cellular pediatrics · 2025Article
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- Evaluating variant pathogenicity prediction tools to establish African inclusive guidelines for germline genetic testing.Communications medicine · 2025Article
- A series of reviews in familial cancer: genetic cancer risk in context variants of uncertain significance in MMR genes: which procedures should be followed?Familial cancer · 2025Review
- Critical assessment of missense variant effect predictors on disease-relevant variant data.Human genetics · 2025Article
- Meta-EA: a gene-specific combination of available computational tools for predicting missense variant effects.Nature communications · 2025Article
69 more citing papers are in PubMed but not listed here.
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Authors and funding
6 authors.
Funding
Abstract
Identifying functional regions in the human genome is a major goal in human genetics. Great efforts have been made to functionally annotate the human genome either through computational predictions, such as genomic conservation, or high-throughput experiments, such as the ENCODE project. These efforts have resulted in a rich collection of functional annotation data of diverse types that need to be jointly analyzed for integrated interpretation and annotation. Here we present GenoCanyon, a whole-genome annotation method that performs unsupervised statistical learning using 22 computational and experimental annotations thereby inferring the functional potential of each position in the human genome. With GenoCanyon, we are able to predict many of the known functional regions. The ability of predicting functional regions as well as its generalizable statistical framework makes GenoCanyon a unique and powerful tool for whole-genome annotation. The GenoCanyon web server is available at http://genocanyon.med.yale.edu.
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