Evidence map›Paper›PMID 32699346›Full record

ArticleJournal of human genetics2020

Lethal mutations with fluctuating heterozygous effect: the lethal force of effective dominance.

A D J Overall, D Waxman

Open access · greenAbstract read
PubMed Publisher
In one paragraph

Article in Journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.2field-weighted citation impact, top 39% of its field
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

0 citing papers in PubMed, 1 citations in OpenAlex.

No citing paper in PubMed yet.

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

2 authors at 2 institutions in 2 countries.

A D J OverallSchool of Pharmacy & Biomolecular Sciences, Huxley Building, University of Brighton, Brighton, East Sussex, BN2 4GJ, UK.ORCID http://orcid.org/0000-0001-9766-1056
D WaxmanCentre for Computational Systems Biology, ISTBI, Fudan University, 220 Handan Road, Shanghai, 200433, PR China. davidwaxman@fudan.edu.cn.
Fudan University · CNUniversity of Brighton · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The theory of population genetics leads to the expectation that in very large populations the frequencies of recessive lethal mutations are close to the square root of the mutation rate, corresponding to mutation-selection balance. There are numerous examples where the frequencies of such alleles are orders of magnitude larger than this result. In this work we theoretically investigate the role of temporal fluctuations in the heterozygous effect (h) for lethal mutations in very large populations. For fluctuations of h, around a mean value of [Formula: see text], we find a biased outcome that is described by an effective dominance coefficient, h

Indexed as

Genetics, PopulationModels, TheoreticalAllelesGene FrequencyGenes, DominantGenes, LethalGenes, RecessiveHeterozygoteHumansMutationMutation RateSelection, Genetic

Identifiers

PMID32699346
OpenAlexW3045259196

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.