Evidence map›Paper›PMID 18667059›Full record

ArticleBMC genomics2008

Haplotype inference from unphased SNP data in heterozygous polyploids based on SAT.

Jost Neigenfind, Gabor Gyetvai, Rico Basekow, Svenja Diehl, Ute Achenbach, Christiane Gebhardt, Joachim Selbig, Birgit Kersten

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Article in BMC genomics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

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16citing papers in PubMed
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3 · Its place in the literature

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16 citing papers in PubMed.

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  13. Inferring combined CNV/SNP haplotypes from genotype data.Bioinformatics (Oxford, England) · 2010
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4 · The record

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5 · Who and what money

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8 authors.

Jost NeigenfindBioinformatics, GabiPD team, Max Planck Institute of Molecular Plant Physiology, 14424 Potsdam-Golm, Germany. neigenfind@mpimp-golm.mpg.de
Gabor Gyetvai
Rico Basekow
Svenja Diehl
Ute Achenbach
Christiane Gebhardt
Joachim Selbig
Birgit Kersten

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHaplotype inference based on unphased SNP markers is an important task in population genetics. Although there are different approaches to the inference of haplotypes in diploid species, the existing software is not suitable for inferring haplotypes from unphased SNP data in polyploid species, such as the cultivated potato (Solanum tuberosum). Potato species are tetraploid and highly heterozygous.

resultsHere we present the software SATlotyper which is able to handle polyploid and polyallelic data. SATlotyper uses the Boolean satisfiability problem to formulate Haplotype Inference by Pure Parsimony. The software excludes existing haplotype inferences, thus allowing for calculation of alternative inferences. As it is not known which of the multiple haplotype inferences are best supported by the given unphased data set, we use a bootstrapping procedure that allows for scoring of alternative inferences. Finally, by means of the bootstrapping scores, it is possible to optimise the phased genotypes belonging to a given haplotype inference. The program is evaluated with simulated and experimental SNP data generated for heterozygous tetraploid populations of potato. We show that, instead of taking the first haplotype inference reported by the program, we can significantly improve the quality of the final result by applying additional methods that include scoring of the alternative haplotype inferences and genotype optimisation. For a sub-population of nineteen individuals, the predicted results computed by SATlotyper were directly compared with results obtained by experimental haplotype inference via sequencing of cloned amplicons. Prediction and experiment gave similar results regarding the inferred haplotypes and phased genotypes.

conclusionOur results suggest that Haplotype Inference by Pure Parsimony can be solved efficiently by the SAT approach, even for data sets of unphased SNP from heterozygous polyploids. SATlotyper is freeware and is distributed as a Java JAR file. The software can be downloaded from the webpage of the GABI Primary Database at http://www.gabipd.org/projects/satlotyper/. The application of SATlotyper will provide haplotype information, which can be used in haplotype association mapping studies of polyploid plants.

Indexed as

Computational BiologyHaplotypesPolymorphism, Single NucleotidePolyploidySoftwareComputer SimulationHeterozygoteModels, GeneticSolanum tuberosum

Identifiers

PMID18667059
PMCPMC2566320

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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.