ArticleGenome biology and evolution2016
Genetic Load of Loss-of-Function Polymorphic Variants in Great Apes.
Article in Genome biology and evolution, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
11 citing papers in PubMed, 24 citations in OpenAlex.
- Genome-wide assessment of genetic diversity and transcript variations in 17 accessions of the model diatomISME communications · 2024Article
- Severe inbreeding, increased mutation load and gene loss-of-function in the critically endangered Devils Hole pupfish.Proceedings. Biological sciences · 2022Article
- Genetic load: genomic estimates and applications in non-model animals.Nature reviews. Genetics · 2022Review
- Assessment of the gene mosaicism burden in blood and its implications for immune disorders.Scientific reports · 2021Article
- Less Is More, Natural Loss-of-Function Mutation Is a Strategy for Adaptation.Plant communications · 2020Review
- Adaptation and Phenotypic Diversification in Arabidopsis through Loss-of-Function Mutations in Protein-Coding Genes.The Plant cell · 2019Article
- Genetic Variation in Pan Species Is Shaped by Demographic History and Harbors Lineage-Specific Functions.Genome biology and evolution · 2019Article
- Next-generation metrics for monitoring genetic erosion within populations of conservation concern.Evolutionary applications · 2018Review
- Prevalence of loss-of-function alleles does not correlate with lifetime fecundity and other life-history traits in metazoans.Biology direct · 2018Article
- Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.Frontiers in immunology · 2018Article
- Potential damaging mutation in LRP5 from genome sequencing of the first reported chimpanzee with the Chiari malformation.Scientific reports · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
Loss of function (LoF) genetic variants are predicted to disrupt gene function, and are therefore expected to substantially reduce individual's viability. Knowing the genetic burden of LoF variants in endangered species is of interest for a better understanding of the effects of declining population sizes on species viability. In this study, we have estimated the number of LoF polymorphic variants in six great ape populations, based on whole-genome sequencing data in 79 individuals. Our results show that although the number of functional variants per individual is conditioned by the effective population size, the number of variants with a drastic phenotypic effect is very similar across species. We hypothesize that for those variants with high selection coefficients, differences in effective population size are not important enough to affect the efficiency of natural selection to remove them. We also describe that mostly CpG LoF mutations are shared across species, and an accumulation of LoF variants at olfactory receptor genes in agreement with its pseudogenization in humans and other primate species.
Indexed as
Identifiers
What OpenQuestion holds
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.