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In brief, the REDHORSE software identifies putative recombination breakpoints by evaluating SNPs in each progeny clone and comparing them to the genotype of the parents.
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Because bisulfite conversion can result in allele dropouts at low DNA concentrations, we further evaluated the potential rate of allele loss for the YH sample by evaluating heterozygous SNPs (more than 2 alleles) (unpublished).
Performance was measured by evaluating the top-ranked SNPs in terms of classification performance, reproducibility between the two datasets, and prior evidence of being associated with LOAD.
The effect of selection is estimated by evaluating the differences in the proportion of segregating sites between synonymous, nonsynonymous SNP, as well as 5' UTR and 3' UTR potential sites.
Specifically, allelic status was determined by evaluating single nucleotide polymorphic (SNP) markers.
In fact, the wrapper is designed to address the same problem, by evaluating a subset of SNPs rather than a single SNP at a time.
The scoring strategy used to evaluate putative SNPs in the absence of raw chromatogram data proved to work reasonably well, as we were able to confirm >= 96% of the SNPs having a probability value >= 0.7 by re-sequencing.
We have also used this resource to design a high-density SNP array, and we have validated the SNPs detected in silico, by evaluated their Mendelian segregation in four pedigrees and determining their level of diversity in four white European oak species [ 33].
SNPs were validated for robust genotyping quality by evaluating signal intensity and cluster separation.
Forty-five of regions of interest which had been identified by aCGH (Tables 1, 2 and 3) could be evaluated by SNP analysis in 40 tumors.
The remaining 5 TLR2 SNPs were evaluated: two synonymous SNPs in the single exon of the gene (rs3804099, rs3804100) and three SNPs in intron (rs11938228, rs769632 and rs1898830).
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