Sentence examples for mutations were annotated from inspiring English sources

Mutations were annotated using SnpEff version 4.0 (ref. 52) with the Ensembl v68 annotation database53.

Based on the models the structure features of NA and M2 proteins were analyzed, the docking structures of drug protein complexes were computed, and the residue mutations were annotated.

These somatic mutations were annotated with ANNOVAR.

Gene mutations were annotated with SnpEff (http://snpeff.sourceforge.net).net

In parallel, all splice mutations were annotated as not tolerated.

Mutations were annotated according to the HGVS nomenclature (http://www.hgvs.org/mutnomen).hgvs.org/mutnomen

Twelve of the probably damaging mutations are annotated as falling in transmembrane regions, two affect a metal binding site, and one affects a modified residue.

Next, the rare and deleterious mutations are annotated using the DGI database, a meta-database that includes gene drug interaction results from many expert-curated and automatically generated drug databases 14.

Some terms are partially annotated but some simple rules could be considered to fully annotate them, for example, pathogenic mutation where pathogenic and mutation are annotated with different concepts or large mutation where only mutation is annotated.

If the frequency of non-Watson-Crick or G-U pairs exceeded 5%, no covariation or compatible mutation was annotated.

The c.428delG mutation is annotated in dbSNP (rs534542684), and its MAF in the general population is surprisingly high (0.39%, 378 out of 96,534 alleles in the ExAC db), reminiscent of the most common deafness (c.35delG in GJB2; 0.60% in the ExAC database) or cystic fibrosis (p.Phe508del in CFTR; 0.67% in the ExAC database) mutation.