ArticleNucleic acids research2022
Prioritization of regulatory variants with tissue-specific function in the non-coding regions of human genome.
Article in Nucleic acids research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets.Nature communications · 2025Pooled it
- Genetic Variations in the Fibronectin 1 Gene (International journal of molecular sciences · 2026Article
- Functionally-informed fine-mapping identifies genetic variants linking increased CHD1L expression and HIV restriction in monocytes.Scientific reports · 2025Article
- Enhancing portability of trans-ancestral polygenic risk scores through tissue-specific functional genomic data integration.PLoS genetics · 2024Article
- Hidden secrets of the cancer genome: unlocking the impact of non-coding mutations in gene regulatory elements.Cellular and molecular life sciences : CMLS · 2024Review
- Prioritizing cardiovascular disease-associated variants altering NKX2-5 and TBX5 binding through an integrative computational approach.The Journal of biological chemistry · 2023Article
- Article
- GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets.medRxiv : the preprint server for health sciences · 2023Article
- Single cell genomics as a transformative approach for aquaculture research and innovation.Reviews in aquaculture · 2023Review
- Challenges in screening forHGG advances · 2023Article
- Optimized high-throughput screening of non-coding variants identified from genome-wide association studies.Nucleic acids research · 2023Article
- Scalable approaches for functional analyses of whole-genome sequencing non-coding variants.Human molecular genetics · 2022Review
- Multiplexed functional genomic assays to decipher the noncoding genome.Human molecular genetics · 2022Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Understanding the functional consequences of genetic variation in the non-coding regions of the human genome remains a challenge. We introduce h ere a computational tool, TURF, to prioritize regulatory variants with tissue-specific function by leveraging evidence from functional genomics experiments, including over 3000 functional genomics datasets from the ENCODE project provided in the RegulomeDB database. TURF is able to generate prediction scores at both organism and tissue/organ-specific levels for any non-coding variant on the genome. We present that TURF has an overall top performance in prediction by using validated variants from MPRA experiments. We also demonstrate how TURF can pick out the regulatory variants with tissue-specific function over a candidate list from associate studies. Furthermore, we found that various GWAS traits showed the enrichment of regulatory variants predicted by TURF scores in the trait-relevant organs, which indicates that these variants can be a valuable source for future studies.
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