Category theory for genetics II: genotype, phenotype and haplotype

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Abstract

In this paper, we use the language of pedigrads, introduced in previous work, to formalize the relationship between genotypes, phenotypes and haplotypes. We show how this formalism can help us localize the variations in the genotype that cause a given phenotype. We then use the concept of haplotype to formalize the process of predicting a certain phenotype for a given set of genotypes.

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Limits to causal inference based on Mendelian randomization: a comparison with randomized controlled trials.

Dorothea Nitsch, Mariam Molokhia, Bianca L DeStavola … (2006)

"Mendelian randomization" refers to the random assortment of genes transferred from parent to offspring at the time of gamete formation. This process has been compared to a randomized controlled trial of genetic variants. This could greatly aid observational epidemiology by potentially allowing an unbiased estimate of the effects of gene products on disease outcomes. However, studies utilizing Mendelian randomization to estimate effects of gene products on outcomes should be interpreted with caution. In this paper, the authors discuss some of the challenges facing epidemiologists in the analysis and interpretation of Mendelian randomization studies, particularly those that become apparent when the analogy with randomized controlled trials is closely examined. The authors conclude that Mendelian randomization is a powerful addition to etiologic research tools. However, care must be taken, because drawing valid causal inferences from its application depends upon more extensive assumptions than are required in randomized controlled trials.