Evidence map›Paper›PMID 38370745›Full record

ArticlebioRxiv : the preprint server for biology2024

Hill-Robertson interference may bias the inference of fitness effects of new mutations in highly selfing species.

Austin Daigle, Parul Johri

Abstract readPreprint
In one paragraph

Article in bioRxiv : the preprint server for biology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

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.

2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

2 authors.

Austin DaigleDepartment of Biology, University of North Carolina, Chapel Hill, NC 27599.ORCID 0000-0001-9732-0163
Parul JohriDepartment of Biology, University of North Carolina, Chapel Hill, NC 27599.ORCID 0000-0002-4003-7719

Funding

UNC Predoc Training Progr in Bioinformatics/Comp BiologyT32GM067553 · NIGMS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI ELSTON, TIMOTHY C · 2005 to 2019
$2.5M
Predoctoral Training Program in Bioinformatics and Computational BiologyT32GM135123 · NIGMS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Michael Isaiah Love, William Valdar · 2021 to 2026
$1.7M
Jointly modeling the effects of evolutionary processes on genomic variationR35GM154969 · NIGMS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Parul Johri · 2024 to 2026
$1.2M
NIGMS NIH HHS R35 GM154969NIGMS NIH HHS T32 GM067553NIGMS NIH HHS T32 GM135123
6 · The paper itself

Abstract

The accurate estimation of the distribution of fitness effects (DFE) of new mutations is critical for population genetic inference but remains a challenging task. While various methods have been developed for DFE inference using the site frequency spectrum of putatively neutral and selected sites, their applicability in species with diverse life history traits and complex demographic scenarios is not well understood. Selfing is common among eukaryotic species and can lead to decreased effective recombination rates, increasing the effects of selection at linked sites, including interference between selected alleles. We employ forward simulations to investigate the limitations of current DFE estimation approaches in the presence of selfing and other model violations, such as linkage, departures from semidominance, population structure, and uneven sampling. We find that distortions of the site frequency spectrum due to Hill-Robertson interference in highly selfing populations lead to mis-inference of the deleterious DFE of new mutations. Specifically, when inferring the distribution of selection coefficients, there is an overestimation of nearly neutral and strongly deleterious mutations and an underestimation of mildly deleterious mutations when interference between selected alleles is pervasive. In addition, the presence of cryptic population structure with low rates of migration and uneven sampling across subpopulations leads to the false inference of a deleterious DFE skewed towards effectively neutral/mildly deleterious mutations. Finally, the proportion of adaptive substitutions estimated at high rates of selfing is substantially overestimated. Our observations apply broadly to species and genomic regions with little/no recombination and where interference might be pervasive.

Indexed as

background selectiondistribution of fitness effectsHill-Robertson interferencepopulation structureself-fertilization

Identifiers

PMID38370745
PMCPMC10871249

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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.