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Extensive DRA locus variation characteristic for Equids was found.
Association mapping was conducted to detect genetic variants at quantitative trait SNP (QTS) loci, quantitative trait transcript (QTT) differences, quantitative trait protein (QTP) variability, and quantitative trait metabolite (QTM) changes, which can be summarized as QTX locus variation.
Common SNPs needed to capture the locus variation in a region including 2 kb upstream and 5.5 kb downstream of GHSR (approx. 11 kb) were selected using pair wise tagging of SNPs with a minor allele frequency (MAF) >0.05 with R2>0.8.
Finally, the level of locus variation was drastically different between the two genetic lineages.
A summary of locus variation can be found in Anderson (2011).
Sequence analysis was able to detect seven alleles and revealed that point mutations enhanced the level of locus variation.
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The remaining seven Balimo isolates comprised two STs (ST667; n = 6 and ST668; n = 1), differing from each other by a single nucleotide polymorphism in the ace gene, but by four and five locus variations from ST267, respectively.
Identification of trait locus variation-related DNA polymorphisms could hence be usefully followed by conversion into specific PCR-based markers, permitting locus-targeted genotyping over larger numbers of individuals [ 19, 20].
We selected seven haplotype-tagging SNPs (tagSNPs) in the ATM gene, six tagSNPs in the CHEK2 gene and seven tagSNPs in the ERBB2 gene that predicted both haplotypic and single locus variations in the respective genes with R2 values ≥ 0.8.
In other cases, cDNA sequences aligned to the genome assembly are also assigned to locus variations by manual curation, which can be used to link classical genetic information with the genome sequence.
The MLVA profile of the isolates was also subjected to a minimum spanning tree (MST) analysis in BioNumerics (MLVA plugin 2.1), illustrating the relationship and possible mutation pathways within the clusters based on single locus variations (SLV).
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