ArticleGenome biology and evolution2017
An Upper Limit on the Functional Fraction of the Human Genome.
Article in Genome biology and evolution, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 40 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
40 citing papers in PubMed.
- Genomic indicators of gene function: a systematic assessment of the human genome.G3 (Bethesda, Md.) · 2026Article
- Beyond Algorithmic Phase Transitions: Integrating Evolutionary Contingency, Biophysical Constraints, and System-Level Organization in Eukaryogenesis.FASEB bioAdvances · 2026Article
- Molecular evolution in light of regulatory-coding epistasis.EMBO reports · 2026Review
- Pervasive cryptic selection in the human noncoding genome.bioRxiv : the preprint server for biology · 2026Article
- Pervasive Transcription in the Human Genome Exceeds Background Noise.Genome biology and evolution · 2026Article
- Comprehensive dissection of cis-regulatory elements in a 2.8 Mb topologically associated domain in six human cancers.Nature communications · 2025Article
- Regulatory activity is the default DNA state in eukaryotes.Nature structural & molecular biology · 2024Article
- Large-scale functional inference for skin-expressing lncRNAs using expression and sequence information.JCI insight · 2023Article
- Article
- A Law of Redundancy Compounds the Problem of Cancer and Precision Medicine.Journal of molecular evolution · 2023Article
- Using evolutionary constraint to define novel candidate driver genes in medulloblastoma.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Review
- Accumulation and maintenance of information in evolution.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Non-coding regulatory elements: Potential roles in disease and the case of epilepsy.Neuropathology and applied neurobiology · 2022Review
- Adaptive eQTLs reveal the evolutionary impacts of pleiotropy and tissue-specificity while contributing to health and disease.HGG advances · 2022Article
- Non-Darwinian Molecular Biology.Frontiers in genetics · 2022Review
- Global population genetics and diversity in the TAS2R bitter taste receptor family.Frontiers in genetics · 2022Article
- Annotation depth confounds direct comparison of gene expression across species.BMC bioinformatics · 2021Article
- Accurate prediction ofNAR genomics and bioinformatics · 2021Article
- The "Genomic Code": DNA Pervasively Moulds Chromatin Structures Leaving no Room for "Junk".Life (Basel, Switzerland) · 2021Review
Corrections and comments
- Erratum issued
Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
For the human population to maintain a constant size from generation to generation, an increase in fertility must compensate for the reduction in the mean fitness of the population caused, among others, by deleterious mutations. The required increase in fertility due to this mutational load depends on the number of sites in the genome that are functional, the mutation rate, and the fraction of deleterious mutations among all mutations in functional regions. These dependencies and the fact that there exists a maximum tolerable replacement level fertility can be used to put an upper limit on the fraction of the human genome that can be functional. Mutational load considerations lead to the conclusion that the functional fraction within the human genome cannot exceed 25%, and is probably considerably lower.
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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.