Evidence map›Paper›PMID 29290402›Full record

ArticleTrends in genetics : TIG2018

Are Lethal Alleles Too Abundant in Humans?

Mallory A Ballinger, Mohamed A F Noor

Abstract readComment
PubMed Publisher
In one paragraph

Article in Trends in genetics : TIG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Article
  2. Quantifying the fraction of new mutations that are recessive lethal.Evolution; international journal of organic evolution · 2023
    Article
  3. Article
  4. Article
  5. The crucial role of genome-wide genetic variation in conservation.Proceedings of the National Academy of Sciences of the United States of America · 2021
    Article
  6. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

2 authors.

Mallory A BallingerDepartment of Integrative Biology and Museum of Vertebrate Zoology, University of California, Berkeley, CA 94720, USA.
Mohamed A F NoorDepartment of Biology, Duke University, Durham, NC 27708, USA. Electronic address: noor@duke.edu.

Funding

Data commons for 'omic, microscopy and analysis core facilitiesS10OD018164 · OD · DUKE UNIVERSITY · PI WRAY, GREGORY A. · 2014 to 2014
$598k
NIH HHS S10 OD018164
6 · The paper itself

Abstract

Across species, many individuals carry one or more recessive lethal alleles, posing an evolutionary conundrum for their persistence. Using a population genomic approach, Amorim et al. studied the abundance of lethal disease-causing mutations in humans and found that, while appearing more common than expected, most may nonetheless persist at frequencies predicted by mutation-selection balance.

Indexed as

Genes, LethalMutationAllelesGenes, RecessiveHumansautosomal recessive diseasehumanslethal allelesmutation–selection balance

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.