ArticleGenetics2015
An estimate of the average number of recessive lethal mutations carried by humans.
Article in Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 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.
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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
42 citing papers in PubMed.
- Historically Small Population Size Limits Purging of Deleterious Mutations in a Conservation-Reliant Species, the Kirtland's Warbler.bioRxiv : the preprint server for biology · 2026Article
- Solones, Solo Reproduction and Vice.Asian bioethics review · 2026Article
- Transposable elements contribute substantially to naturally occurring genetic lethality in Drosophila melanogaster.PLoS biology · 2026Article
- Increased Genetic Load in Breed Chickens and Reduced Coding Content in Long ROH.Genome biology and evolution · 2026Article
- The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.International journal of molecular sciences · 2025Article
- Insights from human NF-κB knockouts.EMBO reports · 2025Review
- Constraining models of dominance for nonsynonymous mutations in the human genome.PLoS genetics · 2024Article
- Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.Nature genetics · 2024Article
- Patterns of reproduction and autozygosity distinguish the breeding from nonbreeding gray wolves of Yellowstone National Park.The Journal of heredity · 2024Article
- Lethal phenotypes in Mendelian disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Lethal phenotypes in Mendelian disorders.medRxiv : the preprint server for health sciences · 2024Article
- Essential genes: a cross-species perspective.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Review
- Quantifying the fraction of new mutations that are recessive lethal.Evolution; international journal of organic evolution · 2023Article
- Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.Nature communications · 2023Article
- Models based on best-available information support a low inbreeding load and potential for recovery in the vaquita.Heredity · 2023Article
- The critically endangered vaquita is not doomed to extinction by inbreeding depression.Science (New York, N.Y.) · 2022Article
- The crucial role of genome-wide genetic variation in conservation.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Non-additive association analysis using proxy phenotypes identifies novel cattle syndromes.Nature genetics · 2021Article
- The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects.American journal of human genetics · 2021Article
- Adaptation, ancestral variation and gene flow in a 'Sky Island' Drosophila species.Molecular ecology · 2021Article
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
The effects of inbreeding on human health depend critically on the number and severity of recessive, deleterious mutations carried by individuals. In humans, existing estimates of these quantities are based on comparisons between consanguineous and nonconsanguineous couples, an approach that confounds socioeconomic and genetic effects of inbreeding. To overcome this limitation, we focused on a founder population that practices a communal lifestyle, for which there is almost complete Mendelian disease ascertainment and a known pedigree. Focusing on recessive lethal diseases and simulating allele transmissions, we estimated that each haploid set of human autosomes carries on average 0.29 (95% credible interval [0.10, 0.84]) recessive alleles that lead to complete sterility or death by reproductive age when homozygous. Comparison to existing estimates in humans suggests that a substantial fraction of the total burden imposed by recessive deleterious variants is due to single mutations that lead to sterility or death between birth and reproductive age. In turn, comparison to estimates from other eukaryotes points to a surprising constancy of the average number of recessive lethal mutations across organisms with markedly different genome sizes.
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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.