Evidence map›Paper›PMID 35136196›Full record

ReviewNature reviews. Genetics2022

Genetic load: genomic estimates and applications in non-model animals.

Giorgio Bertorelle, Francesca Raffini, Mirte Bosse, Chiara Bortoluzzi, Alessio Iannucci, Emiliano Trucchi, Hernán E Morales, Cock van Oosterhout

Abstract readReview
PubMed Publisher
In one paragraph

Review in Nature reviews. Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 164 papers.

0numbers the graph read from it
0cells of the map it votes in
164citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

164 citing papers in PubMed.

  1. Sexual selection purges mutation load, but not overall genetic diversity, decreasing vulnerability to extinction.Proceedings of the National Academy of Sciences of the United States of America · 2026
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  16. Ancient DNA from shells reveals delayed genomic erosion and rapid immune adaptation in the critically endangered black abalone.Proceedings of the National Academy of Sciences of the United States of America · 2026
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  18. Census and genetic analysis of the United States marmoset population.bioRxiv : the preprint server for biology · 2026
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  19. Article
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104 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Giorgio Bertorelle *Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy. ggb@unife.it.ORCID 0000-0002-2498-2702
Francesca Raffini *Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy.
Mirte BosseWageningen University and Research - Animal Breeding & Genomics, Wageningen, Netherlands.
Chiara BortoluzziDepartment of Genetics, University of Cambridge, Cambridge, UK.
Alessio IannucciDepartment of Biology, University of Florence, Sesto Fiorentino, Italy.
Emiliano TrucchiDepartment of Life and Environmental Sciences, Marche Polytechnic University, Ancona, Italy.
Hernán E Morales *Section for Evolutionary Genomics, GLOBE Institute, University of Copenhagen, Copenhagen, Denmark.
Cock van Oosterhout *School of Environmental Sciences, University of East Anglia, Norwich, UK. c.van-oosterhout@uea.ac.uk.ORCID 0000-0002-5653-738X

Funding

Wellcome Trust WT207492
6 · The paper itself

Abstract

Genetic variation, which is generated by mutation, recombination and gene flow, can reduce the mean fitness of a population, both now and in the future. This 'genetic load' has been estimated in a wide range of animal taxa using various approaches. Advances in genome sequencing and computational techniques now enable us to estimate the genetic load in populations and individuals without direct fitness estimates. Here, we review the classic and contemporary literature of genetic load. We describe approaches to quantify the genetic load in whole-genome sequence data based on evolutionary conservation and annotations. We show that splitting the load into its two components - the realized load (or expressed load) and the masked load (or inbreeding load) - can improve our understanding of the population genetics of deleterious mutations.

Indexed as

Genetic LoadGenetics, PopulationAnimalsGenetic VariationGenomeGenomicsInbreedingMutation

Identifiers

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.