Sentence examples for multiple variant annotations from inspiring English sources

Several tools have been published that generate multiple variant annotations at once, which can be tremendously useful for shortening the analysis time (e.g. ANNOVAR, SeattleSeq or VARIANT).

For this task, we presented VariantMetaCaller, which utilizes the high-dimensional annotation information by fusion from multiple variant callers.

Additional file 2 Variant annotations used as features for SVMs.

Currently, annotation tools typically do not associate any measure of uncertainty with reported variant annotations.

Variant annotations are stored in separate tables based on the annotation source.

Variant annotations from different sources may play different roles in variant assessment depending on circumstances.

The method of the Exome Sequencing Project was not developed to utilize the combination of multiple variant-callers, and it determines annotation value cutoffs for defining negative training examples and gold standard data sets for defining positive training examples [ 14].

Within our DNA variant annotation pipeline, biological information across multiple databases is used.

The variants were annotated using the popular variant annotation toolkit ANNOVAR (15).

Variants were annotated with the Ambry Variant Analyzer, a proprietary alignment and variant annotation software (Ambry Genetics).

Variant annotation was performed using annovar and custom scripts.