ArticleProceedings of the National Academy of Sciences of the United States of America2007
Widely distributed noncoding purifying selection in the human genome.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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Who cites it
52 citing papers in PubMed, 97 citations in OpenAlex.
- Pervasive cryptic selection in the human noncoding genome.bioRxiv : the preprint server for biology · 2026Article
- The distribution of fitness effects of new mutations in regulatory regions of thebioRxiv : the preprint server for biology · 2026Article
- The landscape of fitness effects of putatively functional noncoding mutations in humans.bioRxiv : the preprint server for biology · 2025Article
- Toward a comprehensive catalog of regulatory elements.Human genetics · 2023Review
- The effect of mutation subtypes on the allele frequency spectrum and population genetics inference.G3 (Bethesda, Md.) · 2023Article
- A new test suggests hundreds of amino acid polymorphisms in humans are subject to balancing selection.PLoS biology · 2022Article
- Accelerated evolution at chaperone promoters among Antarctic notothenioid fishes.BMC evolutionary biology · 2019Article
- MultipleProceedings of the National Academy of Sciences of the United States of America · 2019Article
- Human cardiacGenome research · 2018Article
- Article
- The Time Scale of Recombination Rate Evolution in Great Apes.Molecular biology and evolution · 2016Article
- Which Genetics Variants in DNase-Seq Footprints Are More Likely to Alter Binding?PLoS genetics · 2016Article
- Comparative and evolutionary insights into CD4 gene across mammalian and avian taxa.Interventional medicine & applied science · 2015Article
- Comprehensive identification and analysis of human accelerated regulatory DNA.Genome research · 2015Article
- Natural Selection and Functional Potentials of Human Noncoding Elements Revealed by Analysis of Next Generation Sequencing Data.PloS one · 2015Article
- Purifying selection in deeply conserved human enhancers is more consistent than in coding sequences.PloS one · 2014Article
- eXtasy: variant prioritization by genomic data fusion.Nature methods · 2013Article
- Widespread purifying selection on RNA structure in mammals.Nucleic acids research · 2013Article
- Sequencing studies in human genetics: design and interpretation.Nature reviews. Genetics · 2013Review
- Prevalence of multinucleotide replacements in evolution of primates and Drosophila.Molecular biology and evolution · 2013Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
It is widely assumed that human noncoding sequences comprise a substantial reservoir for functional variants impacting gene regulation and other chromosomal processes. Evolutionarily conserved noncoding sequences (CNSs) in the human genome have attracted considerable attention for their potential to simplify the search for functional elements and phenotypically important human alleles. A major outstanding question is whether functionally significant human noncoding variation is concentrated in CNSs or distributed more broadly across the genome. Here, we combine whole genome sequence data from four nonhuman species (chimp, dog, mouse, and rat) with recently available comprehensive human polymorphism data to analyze selection at single-nucleotide resolution. We show that a substantial fraction of active purifying selection in human noncoding sequences occurs outside of CNSs and is diffusely distributed across the genome. This finding suggests the existence of a large complement of human noncoding variants that may impact gene expression and phenotypic traits, the majority of which will escape detection with current approaches to genome analysis.
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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.