Evidence map›Paper›PMID 22507187›Full record

ArticleGenetics, selection, evolution : GSE2012

Estimating the effect of SNP genotype on quantitative traits from pooled DNA samples.

John M Henshall, Rachel J Hawken, Sonja Dominik, William Barendse

Open access · goldAbstract read
In one paragraph

Article in Genetics, selection, evolution : GSE, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
1.4field-weighted citation impact, top 16% 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

14 citing papers in PubMed, 23 citations in OpenAlex.

  1. Pooled DNA sequencing in hairy vetch (Frontiers in plant science · 2024
    Article
  2. Using pooled data for genomic prediction in a bivariate framework with missing data.Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie · 2022
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  8. The State of "Frontiers in genetics · 2018
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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

4 authors at 2 institutions in 1 country.

John M HenshallCSIRO Livestock Industries, FD McMaster Laboratory Chiswick, Armidale 2350, NSW, Australia. John.Henshall@csiro.au
Rachel J Hawken
Sonja Dominik
William Barendse
Commonwealth Scientific and Industrial Research Organisation · AUCooperative Research Centre for Beef Genetic Technologies · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundStudies to detect associations between DNA markers and traits of interest in humans and livestock benefit from increasing the number of individuals genotyped. Performing association studies on pooled DNA samples can provide greater power for a given cost. For quantitative traits, the effect of an SNP is measured in the units of the trait and here we propose and demonstrate a method to estimate SNP effects on quantitative traits from pooled DNA data.

methodsTo obtain estimates of SNP effects from pooled DNA samples, we used logistic regression of estimated allele frequencies in pools on phenotype. The method was tested on a simulated dataset, and a beef cattle dataset using a model that included principal components from a genomic correlation matrix derived from the allele frequencies estimated from the pooled samples. The performance of the obtained estimates was evaluated by comparison with estimates obtained using regression of phenotype on genotype from individual samples of DNA.

resultsFor the simulated data, the estimates of SNP effects from pooled DNA are similar but asymptotically different to those from individual DNA data. Error in estimating allele frequencies had a large effect on the accuracy of estimated SNP effects. For the beef cattle dataset, the principal components of the genomic correlation matrix from pooled DNA were consistent with known breed groups, and could be used to account for population stratification. Correctly modeling the contemporary group structure was essential to achieve estimates similar to those from individual DNA data, and pooling DNA from individuals within groups was superior to pooling DNA across groups. For a fixed number of assays, pooled DNA samples produced results that were more correlated with results from individual genotyping data than were results from one random individual assayed from each pool.

conclusionsUse of logistic regression of allele frequency on phenotype makes it possible to estimate SNP effects on quantitative traits from pooled DNA samples. With pooled DNA samples, genotyping costs are reduced, and in cases where trait records are abundant this approach is promising to obtain SNP associations for marker-assisted selection.

Indexed as

GenotypePolymorphism, Single NucleotideAlgorithmsAnimalsBiometryCattleComputer SimulationDNAFemaleGene FrequencyHumansLogistic ModelsModels, GeneticPrincipal Component AnalysisQuantitative Trait LociDNA

Identifiers

PMID22507187
PMCPMC3353226
OpenAlexW2148797745

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.