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To confirm the effect of single nucleotide polymorphisms (SNPs) in chorionic gonadotropin beta (CGB) genes in modulating the susceptibility to recurrent miscarriage (RM) in Danes and in a meta-analysis across Danes and the discovery samples from Estonia and Finland.
For successful construction of the PRS four prerequisites has been suggested: The target and discovery samples must be large (n > 2000 [7]); the discovery sample must be at least as large as the target sample; the phenotype investigated must be relatively homogeneous; and the level of genetic variation explained by common variants must be high [7].
Taken together, these findings suggest that previously associated SNPs and causal variants are often not in linkage disequilibrium in our African American sample although they are in linkage disequilibrium in the discovery samples.
*All FDR values were >0.1 in the discovery samples.
The discovery samples (ATBC Study and PLCO) were genotyped using the Illumina HumanHap550/610 arrays.
Principal component analysis was performed to derive ethnicities of discovery samples.
Genotype data quality control of the discovery samples was previously described [ 25, 34, 35].
Specifically, ABCD2 mRNA expression was found to correlate with both DSPs in the discovery samples.
All primary analyses of the GWAS discovery samples were based on fluorescent intensities which represent the copy numbers.
To check the reliability of the imputed calls, a subset of 214 discovery samples were directly genotyped at rs59072263.
Among the 244 CNVRs, we detected 20 regions that were directionally consistently associated with obesity in both discovery samples.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com