Sentence examples for defined variant from inspiring English sources

We defined variant accuracy (VA) as the percentage of homoplasmic and heteroplasmic variant calls by Sanger that were concordant with 454 vs. total number of variants found by both technologies; we calculated variant accuracy as VA  =  (B2 + C3) / (A2 + A3 + B2 + B3 + C2 + C3).

We also defined variant status as inherited or de novo for those with available parental sequence data.

As noted above, when the new dbSNP build is released, Ensembl is updated with the dbSNP defined variant positions.

Its scalability allows further computational extensions, such as the wrapping of VariantMetaCaller into an expectation-maximization framework that iteratively refines the heuristically defined variant status used for training.

We defined variant genes as those that contained SNPs or InDels, were partly located in syntenic or repeat regions, or were unpaired (genes present at similar loci in both strains were considered paired).

They contain the description of a defined variant, the physicochemical properties of the original residue and that of the missense, the BLOSUM score for the amino acid change, the conservation of the residue across various species, the regions, domains, or sites annotated in its vicinity (Fig. 3).

To identify rare variants, we arbitrarily defined variants with allele frequencies <0.5% as rare and those with frequencies ≥0.5% as common, similar to cutoff used for nDNA variation.

The known KRAS genotype was validated in all cases, and frequencies of the previously defined variants were calculated from combined data of forward and reverse reads.

Deep resequencing of GWAS data has identified highly significant variants at CARD9, NOD2/CARD15, CUL2, and IL18RAP, which contribute to risk associations of previously defined variants at these loci, and as well, showed the functionality of the newly implicated NOD2/CARD15 variants.

This approach takes into consideration the limited ability of Affymetrix platform to precisely define variant breakpoints and the difference between the discovery and the validation platform probe length (25-mers versus ∼60).

A non-skeptical reading of the literature would define variant SCN5A-G615E as a known pathogenic variant.