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There are multiple variants of Turner syndrome.
First, there are multiple variants for UCP2, and we only tested the −866G>A variant.
Additionally, if there are multiple variants under a read's mapping, the read may be mapped to multiple positions in the genome, but usually only the best mappings are reported.
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If there were multiple variants of the 3'UTR sequences, then the longest one for each of the protein coding genes was retained.
Well, it seems a good bet that there will be multiple variants (watches, unlike smartphones, really don't work as one size fits all) but as to styling, it's anyone's guess.
Furthermore, there may be multiple variants in a region that, independently or together, contribute to disease risk (4, 5).
To pinpoint the exact causal genes, under the assumption that there may be multiple variants of common and low frequency which alter disease risk, attention has turned to low-frequency variants that are unlikely to be in LD with other variants.
When the logP value of the imputation test is lower than that of the haplotype analysis, the SNPs at the QTL peak are unlikely to be causal; in contrast when the merge logP is higher, it suggests that the tested variant is consistent with being a quantitative trait nucleotide (QTN), with the caveat that there may be multiple variants with the same SDP that are equally likely to be causal [ 34].
If this variant is not the causal variant, or if there are multiple causal variants in the region, then additional information may be obtained by considering multiple variants per region.
While this SNP is not a strong proxy for a functional variant, there are multiple functional variants in weaker linkage disequilibrium that may be of interest.
In the case of functional pleiotropy, we suppose there are multiple genetic variants (at least as many variants as there are risk factors) which have different magnitudes of effect on the risk factors.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com