ArticleGenome research2012
Personal and population genomics of human regulatory variation.
Article in Genome research, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers.
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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
74 citing papers in PubMed, 112 citations in OpenAlex.
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- The landscape of fitness effects of putatively functional noncoding mutations in humans.bioRxiv : the preprint server for biology · 2025Article
- Massively parallel binding assay (MPBA) reveals limited transcription factor binding cooperativity, challenging models of specificity.Nucleic acids research · 2024Article
- Signatures of selection in Angus and Hanwoo beef cattle using imputed whole genome sequence data.Frontiers in genetics · 2024Article
- A genome-wide genetic screen uncovers determinants of human pigmentation.Science (New York, N.Y.) · 2023Article
- Adaptive eQTLs reveal the evolutionary impacts of pleiotropy and tissue-specificity while contributing to health and disease.HGG advances · 2022Article
- Both Binding Strength and Evolutionary Accessibility Affect the Population Frequency of Transcription Factor Binding Sequences in Arabidopsis thaliana.Genome biology and evolution · 2021Article
- Purifying selection on noncoding deletions of human regulatory loci detected using their cellular pleiotropy.Genome research · 2021Article
- Evolutionary genetics of skin pigmentation in African populations.Human molecular genetics · 2021Review
- Impact of Genetic Variation in Gene Regulatory Sequences: A Population Genomics Perspective.Frontiers in genetics · 2021Review
- Mutation bias interacts with composition bias to influence adaptive evolution.PLoS computational biology · 2020Article
- Identifying collagen VI as a target of fibrotic diseases regulated by CREBBP/EP300.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Article
- An integrative analysis of genome-wide association study and regulatory SNP annotation datasets identified candidate genes for bipolar disorder.International journal of bipolar disorders · 2020Article
- Heterogeneity in the distribution of 159 drug-response related SNPs in world populations and their genetic relatedness.PloS one · 2020Article
- Multi-species annotation of transcriptome and chromatin structure in domesticated animals.BMC biology · 2019Article
- The MHC in the era of next-generation sequencing: Implications for bridging structure with function.Human immunology · 2019Review
- Whole genome SNP-associated signatures of local adaptation in honeybees of the Iberian Peninsula.Scientific reports · 2018Article
- Towards a map of cis-regulatory sequences in the human genome.Nucleic acids research · 2018Article
14 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
The characteristics and evolutionary forces acting on regulatory variation in humans remains elusive because of the difficulty in defining functionally important noncoding DNA. Here, we combine genome-scale maps of regulatory DNA marked by DNase I hypersensitive sites (DHSs) from 138 cell and tissue types with whole-genome sequences of 53 geographically diverse individuals in order to better delimit the patterns of regulatory variation in humans. We estimate that individuals likely harbor many more functionally important variants in regulatory DNA compared with protein-coding regions, although they are likely to have, on average, smaller effect sizes. Moreover, we demonstrate that there is significant heterogeneity in the level of functional constraint in regulatory DNA among different cell types. We also find marked variability in functional constraint among transcription factor motifs in regulatory DNA, with sequence motifs for major developmental regulators, such as HOX proteins, exhibiting levels of constraint comparable to protein-coding regions. Finally, we perform a genome-wide scan of recent positive selection and identify hundreds of novel substrates of adaptive regulatory evolution that are enriched for biologically interesting pathways such as melanogenesis and adipocytokine signaling. These data and results provide new insights into patterns of regulatory variation in individuals and populations and demonstrate that a large proportion of functionally important variation lies beyond the exome.
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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.