ReviewHuman genetics2020
Identifying causal variants and genes using functional genomics in specialized cell types and contexts.
Review in Human genetics, 2020. 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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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases.BMC medical genomics · 2022Pooled it
- Causal variants in animal genomes: approaches to identification, phenotypic impact, and implications for selective breeding.BMC genomics · 2026Review
- Fine mapping of candidate effector genes for heart rate.Human genetics · 2024Article
- Integrated systems biology approach identifies gene targets for endothelial dysfunction.Molecular systems biology · 2023Article
- A comparative atlas of single-cell chromatin accessibility in the human brain.Science (New York, N.Y.) · 2023Article
- metGWAS 1.0: an R workflow for network-driven over-representation analysis between independent metabolomic and meta-genome-wide association studies.Bioinformatics (Oxford, England) · 2023Article
- A causal variant rs3769823 in 2q33.1 involved in apoptosis pathway leading to a decreased risk of non-small cell lung cancer.Cancer biology & medicine · 2022Article
- From Cave Dragons to Genomics: Advancements in the Study of Subterranean Tetrapods.Bioscience · 2022Article
- Chromatin accessibility associates with protein-RNA correlation in human cancer.Nature communications · 2021Observational
- Regulatory SNPs: Altered Transcription Factor Binding Sites Implicated in Complex Traits and Diseases.International journal of molecular sciences · 2021Review
- Unravelling the complex genetics of common kidney diseases: from variants to mechanisms.Nature reviews. Nephrology · 2020Review
- Review
- Special issue on 'Genetic epidemiology of complex diseases: impact of population history and modelling assumptions'.Human genetics · 2020Article
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
A central goal in human genetics is the identification of variants and genes that influence the risk of polygenic diseases. In the past decade, genome-wide association studies (GWAS) have identified tens of thousands of genetic loci associated with various diseases. Since the majority of such loci lie within non-coding regions and have many candidate variants in linkage disequilibrium, it has been challenging to accurately identify specific causal variants and genes. To aid in their discovery a variety of statistical and experimental approaches have been developed. These approaches often borrow information from functional genomics assays such as ATAC-seq, ChIP-seq and RNA-seq to annotate functional variants and identify regulatory relationships between variants and genes. While such approaches are powerful, given the diversity of cell types and environments, it is paramount to select disease-relevant contexts for follow-up analyses. In this review, we discuss the latest developments, challenges, and best practices for determining the causal mechanisms of polygenic disease risk variants with functional genomics data from specialized cell types.
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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.