Evidence map›Paper›PMID 33789342›Full record

ArticleGenetics2021

Ghost QTL and hotspots in experimental crosses: novel approach for modeling polygenic effects.

Jonas Wallin, Małgorzata Bogdan, Piotr A Szulc, R W Doerge, David O Siegmund

Open access · bronzeAbstract read
In one paragraph

Article in Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.9field-weighted citation impact, top 25% 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

1 citing paper in PubMed, 5 citations in OpenAlex.

  1. A polygenic explanation for Haldane's rule in butterflies.Proceedings of the National Academy of Sciences of the United States of America · 2023
    Article
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

5 authors at 5 institutions in 3 countries.

Jonas WallinDepartment of Statistics, Lund University, 220 07 Lund, Sweden.
Małgorzata BogdanDepartment of Statistics, Lund University, 220 07 Lund, Sweden.
Piotr A SzulcDepartment of Mathematics, Institute of Mathematics, University of Wroclaw, 50-137 Wroclaw, Poland.
R W DoergeDepartment of Biological Sciences, Carnegie Mellon University, Pittsburgh, PA 15 213, USA.
David O SiegmundDepartment of Statistics, Stanford University, Stanford, CA 94 305, USA.
Carnegie Mellon University · USInstitute of Mathematics · PLLund University · SEStanford University · USUniversity of Wrocław · PL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Ghost quantitative trait loci (QTL) are the false discoveries in QTL mapping, that arise due to the "accumulation" of the polygenic effects, uniformly distributed over the genome. The locations on the chromosome that are strongly correlated with the total of the polygenic effects depend on a specific sample correlation structure determined by the genotypes at all loci. The problem is particularly severe when the same genotypes are used to study multiple QTL, e.g. using recombinant inbred lines or studying the expression QTL. In this case, the ghost QTL phenomenon can lead to false hotspots, where multiple QTL show apparent linkage to the same locus. We illustrate the problem using the classic backcross design and suggest that it can be solved by the application of the extended mixed effect model, where the random effects are allowed to have a nonzero mean. We provide formulas for estimating the thresholds for the corresponding t-test statistics and use them in the stepwise selection strategy, which allows for a simultaneous detection of several QTL. Extensive simulation studies illustrate that our approach eliminates ghost QTL/false hotspots, while preserving a high power of true QTL detection.

Indexed as

Crosses, GeneticModels, GeneticMultifactorial InheritanceQuantitative Trait LociAnimalsBreedingGenome-Wide Association StudyPlantsexpression quantitative trait loci (e-QTL) mappingghost QTLhotspotsmixed effect modelpolygenesQTL mapping

Identifiers

PMID33789342
PMCPMC8045733
OpenAlexW3120895839

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.