For each ambiguity combination, all possible variants (excluding the original motif) are then considered.
Briefly, we sequenced MC1R and classified variants D84E, R142H, R151C, I155T, R160W, D294H as 'R' variants and all other variants excluding synonymous changes and non-coding changes as 'r' variants.
For example, an initial analysis might include all missense, splice or stop altering variants, excluding only synonymous and non-coding variants.
Across all eight exomes, we found 332 variants (excluding synonymous) among 104 of our panel of 169 genes (supplementary table 4).
REVEL was trained with recently discovered pathogenic and rare neutral missense variants, excluding those previously used to train its constituent tools.
We compiled 128 variants (excluding mitochondrial variants) catalogued in the ClinVar archive (sourced from the GWAVA website [ 39]) into a known disease variant set.
In total, 25.1% of the newly developed 1,131,860 variants (excluding the Illumina® MaizeSNP50 variants) failed to convert and did not give reliable genotype calls upon inbred correction (designated "other" in Additional file 1: Table S6).
¥Truncating and splice junction variants; excludes final exon nonsense and frameshift variants.
In particular, the synaptic accumulations of CMT2B variants exclude endosomal markers, suggesting that they are not functional.
Reasonable sample size with cases and controls and relatively high frequency of occurrence of genotyped variants excludes type 2 statistical error.
Because only about 5percentt of people have the genetic variant, excluding them from using abacavir does not shrink the market much.
