Sentence examples for variants were interpreted from inspiring English sources

Missense variants were interpreted as likely deleterious if they were classified as deleterious or probably damaging by the three tools.

(2) How can we ensure variants are interpreted and managed appropriately?

The flexibility of Spy variants is interpreted as the percentage of protected protons in the deuterium exchange analysis measured at 25°C and is inversely correlated with the stability of these Spy variants in the absence of client.

The growing momentum for mainstream (non-genetic) speciality consultants to order gene tests places further urgency on the development of robust, professionally agreed, national, standardised systems of reporting, to ensure variants are interpreted and managed consistently and appropriately.

Both de novo variant were interpreted to be of uncertain significance.

Therefore, the homozygous state of this variant was interpreted as a pathogenic.

Of these 14 novel variants, 7 were interpreted as mutations (1 de novo missense, 2 nonsense, 2 splice site, 2 frameshift) and 7 were deemed to be of uncertain pathogenicity (4 missense, 1 synonymous, 2 splice site; table 1).

Novel DNA sequence variations were interpreted as variants of uncertain pathogenicity (VUS) if they predicted missense or synonymous codons or occurred near but not within canonical splice site consensus sequences.

Of these, 217 were interpreted as familial variants and 11 were determined to be de novo; the remaining 34 await parental studies to resolve the clinical significance.

Two variants have been interpreted as 'likely pathogenic' by the operator, by highlighting in light brown.

Hence, many of the haplogroup-associated normal variants will be interpreted as potentially pathogenic.