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Many estimates are larger because they provide a count of overall variants, as opposed to new, unique threats.
The signature of positive and negative selection is the high number of rare variants as opposed to common ones [33].
The focus is on the detection of single-base sequence variants as opposed to changes in copy number or large rearrangements.
This therefore questions the threshold at which underlying populations, as indicated by the percentage of sequencing reads supporting a variant allele, can be confirmed as true variants as opposed to sequencing errors.
Knowledge of the location and content of duplicated regions could be important for accurately mapping QTL, and validating putative single-nucleotide polymorphisms (SNPs) that may have arisen from allelic variants as opposed to recently duplicated sequences[ 33].
To account for the possibility that contiguous CNVs called by SOMATICS may represent a single larger CNV, especially in the tumour genome, we have measured the base pair coverage of these variants as opposed to their frequency.
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Overall, fewer AS chicken genes show high transcript diversity, with predominantly introns linking two variant exons, as opposed to human and mouse genes.
Although published genetic association studies have used a variety of methods for presenting results, we selected disease-associated variant genotypes as opposed to allele frequencies, as the relationship of the latter to disease has not been clearly defined.
Methods such as PredictSNP [ 48], Condel [ 49], and MetaSNP [ 50] have been explicitly optimized to combine different methods, mostly to annotate disease-variant relationships (as opposed to functional changes).
Table 4 shows the adjusted ORs for exposure to average levels of chloroform and total THMs from drinking water (contrasting the group above the 90th percentile with the group at or below the 90th), according to whether the newborn or the mother carried one or two variant alleles, as opposed to none.
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