Inference of haplotypic phase and missing genotypes in polyploid organisms and variable copy number genomic regions
2008

New Software for Analyzing Genetic Data in Polyploid Organisms

Sample size: 19 publication Evidence: high

Author Information

Author(s): Su Shu-Yi, White Jonathan, Balding David J, Coin Lachlan JM

Primary Institution: Imperial College, London

Hypothesis

Can polyHap effectively infer haplotypic phase and missing genotypes in polyploid organisms?

Conclusion

The polyHap software outperforms existing methods in accurately inferring haplotypic phase and missing genotypes in polyploid organisms.

Supporting Evidence

  • PolyHap had an average switch error rate of 6.6% compared to 8.8% for SATlotyper.
  • 15 out of 17 samples were phased correctly by polyHap, while 13 were phased correctly by SATlotyper.
  • PolyHap provides a measure of certainty for each imputed genotype, with over 80% of predicted genotypes having certainty > 0.9.

Takeaway

Researchers can now use a new tool called polyHap to better understand the genetic makeup of plants and animals with multiple sets of chromosomes.

Methodology

The study used a hidden Markov model (HMM) and a sampling algorithm to infer haplotypes from polyploid genotype data.

Limitations

The method does not support variable ploidy within an individual and may require separate runs for regions with different ploidy.

Participant Demographics

The study involved 19 tetraploid potato individuals with known haplotypic phase.

Digital Object Identifier (DOI)

10.1186/1471-2105-9-513

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