Evidence map›Paper›PMID 21595880›Full record

ArticleBMC bioinformatics2011

Genotype calling in tetraploid species from bi-allelic marker data using mixture models.

Roeland E Voorrips, Gerrit Gort, Ben Vosman

Abstract read
In one paragraph

Article in BMC bioinformatics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 96 papers.

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0cells of the map it votes in
96citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

Who cites it

96 citing papers in PubMed.

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  9. Surprisingly frequent chromosomal instability in cultivated peanut.The Plant journal : for cell and molecular biology · 2025
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  19. Construction of relatedness matrices in autopolyploid populations using low-depth high-throughput sequencing data.TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik · 2024
    Article
  20. Article

36 more citing papers are in PubMed but not listed here.

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

3 authors.

Roeland E VoorripsPlant Breeding Department, Wageningen University and Research Centre, Wageningen, The Netherlands. roeland.voorrips@wur.nl
Gerrit Gort
Ben Vosman

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAutomated genotype calling in tetraploid species was until recently not possible, which hampered genetic analysis. Modern genotyping assays often produce two signals, one for each allele of a bi-allelic marker. While ample software is available to obtain genotypes (homozygous for either allele, or heterozygous) for diploid species from these signals, such software is not available for tetraploid species which may be scored as five alternative genotypes (aaaa, baaa, bbaa, bbba and bbbb; nulliplex to quadruplex).

resultsWe present a novel algorithm, implemented in the R package fitTetra, to assign genotypes for bi-allelic markers to tetraploid samples from genotyping assays that produce intensity signals for both alleles. The algorithm is based on the fitting of several mixture models with five components, one for each of the five possible genotypes. The models have different numbers of parameters specifying the relation between the five component means, and some of them impose a constraint on the mixing proportions to conform to Hardy-Weinberg equilibrium (HWE) ratios. The software rejects markers that do not allow a reliable genotyping for the majority of the samples, and it assigns a missing score to samples that cannot be scored into one of the five possible genotypes with sufficient confidence.

conclusionsWe have validated the software with data of a collection of 224 potato varieties assayed with an Illumina GoldenGate™ 384 SNP array and shown that all SNPs with informative ratio distributions are fitted. Almost all fitted models appear to be correct based on visual inspection and comparison with diploid samples. When the collection of potato varieties is analyzed as if it were a population, almost all markers seem to be in Hardy-Weinberg equilibrium. The R package fitTetra is freely available under the GNU Public License from http://www.plantbreeding.wur.nl/UK/software_fitTetra.html and as Additional files with this article.

Indexed as

AlgorithmsGenotypeTetraploidyAllelesDNA, PlantHeterozygotePlantsPolymorphism, Single NucleotideSoftwareSolanum tuberosumDNA, Plant

Identifiers

PMID21595880
PMCPMC3121645

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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.