Alamut® Focus is a graphical application for the filtering of genetic variations. It is designed for clinical diagnostic and research laboratories analyzing Next Generation Sequencing data (NGS).
Alamut® Focus allows the user, with the help of user-defined or pre-configured filters, to quickly identify causative genetic variations (which could explain the pathological status of an individual suffering from a genetic disorder) among thousands of annotated variants from a group of unrelated individuals or a family.
Alamut® Focus supports simple selection criteria based on variant features, such as change type, coding effect or population frequencies, as well as multi-sample inheritance-based scenarios, eg. trio analysis.
Starting from variant collections annotated by Alamut Batch, Alamut Focus allows the user to quickly design and apply simple to complex variant filtering strategies, based on user-defined criteria or pre-configured ones. Alamut® Focus is a powerful, efficient and easy-to-use software application allowing users to identify causal mutations responsible for Mendelian disorders from a large dataset of variants detected by high-throughput sequencing.
The large panel of annotations provided by Alamut® Batch can be easily filtered with Alamut® Focus. For instance, this allows users to take benefit from the Gene Ontology information or splicing predictions calculated by Alamut Batch in order to assess the biological impact of the variants from different perspectives.
Alamut® Focus has been developed on one hand for an exploratory approach of a variant dataset with which the user interactively defines and fine-tunes filtering strategies. As inclusion or exclusion criteria are applied, the selected variant list is dynamically updated, allowing for the fast development of filtering scenarios. On the other hand, it enables automatic and repeated application of already-defined scenarios.
Filtered variants and their annotations can be exported as tab delimited files for further processing.
Mutation files can be generated for each gene and then displayed in Alamut® Visual.