ArticleGenome research2015
Genomic approaches for understanding the genetics of complex disease.
Article in Genome research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
What it found
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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
45 citing papers in PubMed, 84 citations in OpenAlex.
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- Comprehensive Multi-omics Analysis of Regulatory Variants for Body Weight in Cattle.Genomics, proteomics & bioinformatics · 2025Article
- Multi-omics pan-cancer study of SPTBN2 and its value as a potential therapeutic target in pancreatic cancer.Scientific reports · 2024Article
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- Investigation of pathogenic germline variants in gastric cancer and development of "GasCanBase" database.Cancer reports (Hoboken, N.J.) · 2023Article
- Deciphering transcription factors and their corresponding regulatory elements during inhibitory interneuron differentiation using deep neural networks.Frontiers in cell and developmental biology · 2023Article
- Emerging Role of Clinical Genetics in CKD.Kidney medicine · 2022Review
- Genetic variants associated mRNA stability in lung.BMC genomics · 2022Article
- Polycystic Ovarian Syndrome: A Complex Disease with a Genetics Approach.Biomedicines · 2022Review
- The Utility of Genomic Testing for Hyperphenylalaninemia.Journal of clinical medicine · 2022Review
- Biomolecular phenotyping and heterogeneity assessment of mesenchymal stromal cells using label-free Raman spectroscopy.Scientific reports · 2021Article
- Allele-specific expression of Parkinson's disease susceptibility genes in human brain.Scientific reports · 2021Article
- Genetic Epidemiology of Complex Phenotypes.Methods in molecular biology (Clifton, N.J.) · 2021Review
- Cytokines mapping for tissue-specific expression, eQTLs and GWAS traits.Scientific reports · 2020Article
- Postadmixture Selection on Chileans Targets Haplotype Involved in Pigmentation, Thermogenesis and Immune Defense against Pathogens.Genome biology and evolution · 2020Article
- Epigenomics and genotype-phenotype association analyses reveal conserved genetic architecture of complex traits in cattle and human.BMC biology · 2020Article
- Introducing PIONEER: a project to harness big data in prostate cancer research.Nature reviews. Urology · 2020Review
- A super enhancer controls expression and chromatin architecture within the MHC class II locus.The Journal of experimental medicine · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
There are thousands of known associations between genetic variants and complex human phenotypes, and the rate of novel discoveries is rapidly increasing. Translating those associations into knowledge of disease mechanisms remains a fundamental challenge because the associated variants are overwhelmingly in noncoding regions of the genome where we have few guiding principles to predict their function. Intersecting the compendium of identified genetic associations with maps of regulatory activity across the human genome has revealed that phenotype-associated variants are highly enriched in candidate regulatory elements. Allele-specific analyses of gene regulation can further prioritize variants that likely have a functional effect on disease mechanisms; and emerging high-throughput assays to quantify the activity of candidate regulatory elements are a promising next step in that direction. Together, these technologies have created the ability to systematically and empirically test hypotheses about the function of noncoding variants and haplotypes at the scale needed for comprehensive and systematic follow-up of genetic association studies. Major coordinated efforts to quantify regulatory mechanisms across genetically diverse populations in increasingly realistic cell models would be highly beneficial to realize that potential.
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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.