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Markers rs3916965 (M12) to rs778294 (M19) formed an LD block defined with a solid spine of LD with a D' >0.8.
Markers in high LD with a QTL at short distances are expected to retain high LD in the following generation and will consequently be effective for MAS.
Any SNP in linkage disequilibrium (LD) with a reported risk SNP may be causal, and the number of such LD SNPs are often from dozens to thousands6.
The examination of LD around individual simulated QTL shows that, in some cases, multi-SNP haplotypes can be in much stronger LD with a QTL-SNP than are any of the constituent SNPs.
To account for uncertainty of GWAS mapping, we extended the set of GWAS SNPs to all SNPs in LD with a GWAS SNP in Europeans (r2 > 0.8), given that most GWAS are performed on individuals of European ancestry.
Also, the moisture content was considered because it had a significantly positive effect on LD, with a standardized effect of 3.57.
This can occur when a locus is in linkage disequilibrium (LD) with a beneficial mutation.
Hence, it remains unclear whether the associated SNPs are in the LD with a yet unknown causal variant or are themselves functional by affecting the gene expression.
However, rs780094 has been replicated consistently and is in high LD with a reportedly functional variant, rs1260326, in European-ancestry populations.
Taken together, our multi-ethnic replication study suggests that IL12B sequence variation influences risk for pulmonary PTB either directly or through LD with a functional variant.
Additionally, we have found evidence to suggest that the six most highly associated SNPs either may have functional significance or are in LD with a functional variant.
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