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Based upon the simulation results as shown in Table 3, the power achieved using these two types of methods, haplotype-based pedigree tests vs. rare variants based pedigree tests, depending on which one had greater contribution on disease between haplotypes and rare variants.
Six tests investigated here were as follows, hPDT: haplotype-based pedigree disequilibrium test; hPDT-t: haplotype-based pedigree disequilibrium test with 30% training data; maxV: maximal rare variant test; vPDT: variant-based pedigree disequilibrium test; vPDT-t: rare variant based pedigree disequilibrium test with 30% training data.
Abbreviations: maxH: maximal haplotype test; hPDT: haplotype-based pedigree disequilibrium test; hPDT-t: haplotype-based pedigree disequilibrium test with training data; maxV: maximal rare variant test; vPDT: variant-based pedigree disequilibrium test; vPDT-t: rare variant based pedigree disequilibrium test with training data.
As assessed through a variety of scenarios, the haplotype-based pedigree tests had enhanced statistical power compared with the rare variants based pedigree tests when the disease of interest was mainly caused by rare haplotypes (with multiple rare alleles), and vice versa when disease was caused by rare variants acting independently.
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Fang and Chiu [ 27] had proposed extended SVM and SVM based pedigree-based generalized multifactor dimensionality (PGMDR) to study the interactions between genes.
IMPUTE2 is a hidden-Markov model based pedigree-free imputation approach with methodological similarities to Beagle, MaCH, and fastPHASE, which have been compared to each other in several studies [ 4, 19, 20].
The parental links are considered virtually complete for people born after 1954, which allows the construction of population based pedigrees.
The presence of biallelic QTLs in the genome are tested simultaneously with QTL alleles carried by founders by inference on QTL genotype probabilities for any members of the pedigree based on pedigree, marker and phenotype data.
These methods are based on pedigree information, or on molecular data when pedigree information is not available.
Inbreeding coefficients based on pedigree (F ped ) and rates of inbreeding based on pedigree (ΔF ped ) assumed that the G0 individuals were unrelated base individuals.
These analyses were performed with a reduced number of animals (n = 94), for which the allele origin (Iberian or Landrace) could be unambiguously determined based on pedigree information.
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