Hardy-Weinberg equilibrium revisited for inferences on genotypes featuring allele and copy-number variations

@article{Recke2015HardyWeinbergER,
  title={Hardy-Weinberg equilibrium revisited for inferences on genotypes featuring allele and copy-number variations},
  author={Andreas Recke and Klaus-G{\"u}nther Recke and Saleh M. Ibrahim and Steffen M{\"o}ller and Reinhard Vonthein},
  journal={Scientific Reports},
  year={2015},
  volume={5}
}
Copy number variations represent a substantial source of genetic variation and are associated with a plethora of physiological and pathophysiological conditions. Joint copy number and allelic variations (CNAVs) are difficult to analyze and require new strategies to unravel the properties of genotype distributions. We developed a Bayesian hidden Markov model (HMM) approach that allows dissecting intrinsic properties and metastructures of the distribution of CNAVs within populations, in… 
3 Citations

The transitivity of the Hardy-Weinberg law.

The transitivity of the Hardy-Weinberg law

TLDR
Results of statistical tests for Hardy-Weinberg equilibrium obtained with polymorphisms that are reduced by deletion or joining of alleles are seen to be consistent with the formulated transitivity principle, and its usefulness in practical genetic data analysis with multi-allelic markers is explored.

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