As can be seen in Table 2 and 3, some G6PD variants are restricted to certain areas and regions, while others are more widely spread.
Gene isoforms, including splice variants, are restricted to those mapped from the related species annotation; true splice variant information still has to be obtained by other methods, such as cDNA sequencing from different tissues from the microarray target species.
The use of both variants was restricted, but only flying the flag with coat of arms was, from 1955 until 1985, punishable by a fine or arrest for up to one year.
Firstly, our algorithm for searching potential causal variants was restricted to well-annotated protein coding regions.
In reality, the assumptions that there were only 3 lipid categories and that the effects of the genetic variants were restricted to these lipid fractions are oversimplifications.
Variants were restricted to non-synonymous, splice site or within−50/+10 bp of flanking exons and predicted by Alamut-HT to affect splicing.
While two of these variants were restricted to a single population (or mitochondrial lineage), one of them (position 39 of intron DHRS3-3) was present in at least three of these lineages: A1, B1 and B2.
Variants were restricted to those that 1) had no more than a 1% frequency in the phase 1 1000 genomes data (Abecasis et al. 2012), and 2) altered the coding sequence (nonsense, splice-site, missense and insertion/deletion).
In the pre-genomic era, the hunt for disease-causing variants was restricted to rare alleles of high penetrance, and required a careful analysis of the mode of inheritance.
This translates, in the joint SFS, into variants being restricted to the axes of the joint SFS [classes (20, i), (i,20), with i ranging from 1 to 20 in Figure 2B].
In the 'Dominant' inheritance model of the Genetic Analysis filter (Additional file 1 : Figure S1) the variants were restricted to 'transmitted' (from controls to cases), 'heterozygous' genotype in cases and, with genotype occurrence in 2 of the 2 case samples at variant level.
