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However, when the underlying model is recessive, the robust tests are more powerful than the trend test which assumes additivity.
Even under HWE, when the genetic model is recessive or dominant, the ABT may suffer from serious power loss.
Once again, the CATT and MERT lose power dramatically compared to other methods when the genetic model is recessive or under-dominant.
This test provides reasonable power for dominant or co-dominant genetic models, but limited power if the underlying model is recessive.
Genetic model is recessive (REC), additive (ADD), multiplicative (MUL), and dominant (DOM) when λ1 = 1, λ1 = (1 + λ2)/2, λ1 = λ21/2, and λ2 = λ1, respectively.
Freidlin et al. (2002) showed that employing the additive test results in substantial power loss if the true disease model is recessive, especially for alleles with low frequency (say <0.1).
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Only one gene transmission model, that is, recessive effect (DD versus ID + II) of the D allele, was tested.
One such model is the recessive compound heterozygote model where affected individuals have inherited one defective allele from each parent; one located on a maternally derived haplotype, and the other defective allele located on a paternally inherited haplotype.
Taken together, the data from mouse models suggests that ADPKD is recessive at the molecular level and that embryonic loss of either Pkd1 or Pkd2 is incompatible with viability.
The most parsimonious model was a recessive model for high bilirubin levels that occurred in about 23% of the population.
The best fitting model was a recessive model for MTHFR 1298CC genotypes, which significantly increased the risk of hand foot syndrome (logistic regression, P=4.1 × 10−6, OR=9.99, 95% CI: 3.84 27.8).
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