Sentence examples for variations were annotated from inspiring English sources

Variations were annotated using a custom annotation program developed by the University of Iowa.

SNPs classified as allelic variations were annotated based on the RAP-DB gene models using SnpEff v. 3.1 (Cingolani et al. 2012) (Additional file 12).

For each tissue, variations were annotated using the gene models generated by Ensembl (ensembl 54.36, www.ensembl.org).org

Sequence variations were annotated and functionally classified using ANNOVAR.

All of these variations were annotated in the COSMIC database.

Variations were annotated with in-house software and the SeattleSeq server (Dixon-Salazar et al., 2012).

In both cases the variations are annotated using ANNOVAR (Wang et al., 2010) to construct all polymorphic epitopes.

That is, querying for all 'elongate' jaws, for example, would return jaws of all shapes because all descriptions of jaw shape variation are annotated to the high level term shape.

Genomic variation was annotated using SnpEff (ver. 3.3; minimum coverage = 5X, minimum base quality = 20).

The exonic de novo variations identified were annotated with gene information for the two patients (Tables 3 and 4).

To identify nucleotide mutations, including both unknown mutations and those that have been reported in the dbSNP137 (http://www.ncbi.nlm.nih.gov/projects/SNP) and 1000 Genome Project (http://www.1000genomes.org), the genomic variations in the sequences were annotated with the ANNOVAR software [ 15].